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Baby Harper races to raise $2.8 million for gene therapy treatment | News – Daily Hive

August 24th, 2020 9:56 pm

An Edmonton babys parents are trying to raise $2.8 million to pay for a gene therapy treatment to stop her rare neurodegenerative disorder before her second birthday.

Harper Hanki was diagnosed Spinal Muscular Atrophy Type 1 in January 2020. Its a terminal genetic disorder that will see Harper gradually lose control of her muscular movements.

Shes very vocal. Happy all the time. Determined,her father John Hanki told Daily Hive.

Her disorder is the same one that two Metro Vancouver babies also have. Baby Lucy and baby Aryan made headlines earlier this summer as their families both successfully raised the nearly $3 million needed to import the lifesaving drug from the US.

The Hanki family is incredibly happy for those families, and hopes their own fundraising journey isnt old news.

The drug that will help Harper is called Zolgensma. Its one-time injection that will insert a working copy of Harpers defective gene, effectively stopping the degenerative disorder in its tracks.

But theres a catch: Zolgensma the most expensive drug in the world. The treatment is sold by Swiss drug-maker Novartis, and it isnt yet approved in Canada. That means its not covered by any provincial health plan, and families like the Hankis have to import the drug from the US through their local hospital.

Time is of the essence, because Zolgensma is only effective in children under two years old. Harper just turned one, and her parents hope to get the treatment as soon as possible.

So far, theyve raised $152,000 through their GoFundMe page.

Even though thats an absurd amount of money, its just hard to know that its not even close, Amanda Hanki, Harpers mother, told Daily Hive. For the circumstances, its unfortunately just a drop in the bucket.

So the family has produced a video telling Harpers story and asking for donations from friends, family, and complete strangers.

We know its possible You see the Oilers 50/50 get to $15 million in seven hours, were just thinking how do we get our hands on that, Amanda said.

For now, Harper is getting injections of Spinraza. Its a temporary solution that slows SMAs progress. As each injection wears off, John says its clear Harper is gradually losing motor function.

She cant really move like a one-year-old should, he said.

The Hankis are in talks with their local MLA to try and lobby Alberta Health Minister Tyler Shandro to include Zolgensma under the provinces public health coverage.

Although SMA is a rare disease, the Hankis know Harper wont be the last baby born with it.

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Baby Harper races to raise $2.8 million for gene therapy treatment | News - Daily Hive

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Pipeline report: Alzheimer’s disease, from amyloid and tau to gene therapies and beyond – FierceBiotech

August 24th, 2020 9:56 pm

With 40million people thought to suffer from dementia throughout the world and the number due to double in 20 years, theres no overstating the desperate need for drugs to slow down its progression.

And unfortunately, theres no overstating the amount of money spent in pursuit of an Alzheimers disease (AD) therapy that addresses its underlying processesto little practical effect so far.

Alzheimers accounts for the bulk of dementia cases, and for decades the only available treatments were drugs that try to restore neurotransmitter levels in the brain, which only affect symptoms and have modest effects at best. The last of those was approved 17 years ago.

Billions of research dollars have gone into discovering the underlying mechanisms in AD and seeking drugs that can disrupt the pathogenic steps that lead to the destruction of neurons, but its a hugely long and expensive process.

For many years, researchers have concentratedone might even say fixatedon the physical manifestations of AD visible in the brain, namely extracellular amyloid plaques and, more recently, intracellular tau protein tangles.

That has been a largely thankless task with well over 200 failed programs, many of which advanced to the costly phase 3 testing stage before being abandonedalthough one amyloid drug once left for dead was revived last year and submitted to the FDA this summer (more on that later).

Despite the attrition rate, amyloid-targeting drugs still account for 13 of 32 candidates in late-stage clinical trials in ADaround 40%just about the same percentage as the year prior, according to an analysis (PDF) from the Us Against Alzheimers organization presented at this years Alzheimers Association International Conference.

The remaining 19 are split among several other approaches, from tau-targeting attempts to a mixed bag of other drugs aimed at protecting neurons from degenerating and blocking inflammation and metabolic processes linked to dementia.

The shift from amyloid more apparent in the mid-stage pipeline, however, where nineof 58 programs are now targeting that protein and the rest are spread into other approaches. Fifteen, for instance, fall into the neurotransmission category, and just six are targeting tau.

The Alzheimers Drug Discovery Foundationis convinced that the answer to treating AD will lie in using multiple drugs in combination, or drugs with multiple effects in one molecule, reflecting the fact that it is an enormously complex disease with multiple causes and pathologies. Understanding AD is made even harder by the fact that the disease can be definitively diagnosed only post-mortem, by examining the brain.

Its also worth noting that many of the predictions and timelines in this article predate the coronavirus pandemic, so may be overly-ambitious if the disruption caused by COVID-19 extends for months more. Many of the readouts are due between now and 2022, so one things for suretherell be plenty of news in AD over the next couple of years.

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Pipeline report: Alzheimer's disease, from amyloid and tau to gene therapies and beyond - FierceBiotech

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Orchard Therapeutics Announces Clinical Data Presentations at the 46th Annual Meeting of the European Society for Blood and Marrow Transplantation…

August 24th, 2020 9:56 pm

BOSTON and LONDON, Aug. 24, 2020 (GLOBE NEWSWIRE) -- Orchard Therapeutics (Nasdaq: ORTX), a global gene therapy leader, today announced presentations at the upcoming 46th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT), taking place virtually from August 29 - September 1, 2020. New interim data from OTL-203, an investigational gene therapy for the treatment of mucopolysaccharidosis type I (MPS-I), will be shared as part of an invited oral presentation titled Gene Therapy in Leucodystrophies and Other Metabolic Disorders.

The presentations are listed below and the full preliminary program is available online at the EBMT Annual Meeting website. Presentations will be available to registered attendees for virtual viewing throughout the duration of the live meeting and content will be accessible online following the close of the meeting.

Invited Oral Presentation Details

E7-2: Gene Therapy in Leucodystrophies and Other Metabolic Disorders Session: Gene Therapy for Inherited Disorders 2020Presenter: M. Ester Bernardo, M.D., Ph.D., San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), ItalyDate and time: Monday, August 31, 2020, 4:50-5:10pm CET/10:50-11:10am ET

ePoster Details

Ex-vivo Autologous Haematopoietic Stem Cell Gene Therapy in Mucopolysaccharidosis Type IIIA*Poster Session & Number: Gene Therapy; ePoster A214

Lentiviral Hematopoietic Stem and Progenitor Cell Gene Therapy (HSPC-GT) For Metachromatic Leukodystrophy (MLD): Clinical Outcomes From 33 PatientsPoster Session & Number: Gene Therapy; ePoster O075

About OrchardOrchard Therapeutics is a global gene therapy leader dedicated to transforming the lives of people affected by rare diseases through the development of innovative, potentially curative gene therapies. Our ex vivo autologous gene therapy approach harnesses the power of genetically modified blood stem cells and seeks to correct the underlying cause of disease in a single administration. In 2018, Orchard acquired GSKs rare disease gene therapy portfolio, which originated from a pioneering collaboration between GSK and the San Raffaele Telethon Institute for Gene Therapy in Milan, Italy. Orchard now has one of the deepest and most advanced gene therapy product candidate pipelines in the industry spanning multiple therapeutic areas where the disease burden on children, families and caregivers is immense and current treatment options are limited or do not exist.

Orchard has its global headquarters in London and U.S. headquarters in Boston. For more information, please visit http://www.orchard-tx.com, and follow us on Twitter and LinkedIn.

Availability of Other Information About OrchardInvestors and others should note that Orchard communicates with its investors and the public using the company website (www.orchard-tx.com), the investor relations website (ir.orchard-tx.com), and on social media (Twitter and LinkedIn), including but not limited to investor presentations and investor fact sheets, U.S. Securities and Exchange Commission filings, press releases, public conference calls and webcasts. The information that Orchard posts on these channels and websites could be deemed to be material information. As a result, Orchard encourages investors, the media, and others interested in Orchard to review the information that is posted on these channels, including the investor relations website, on a regular basis. This list of channels may be updated from time to time on Orchards investor relations website and may include additional social media channels. The contents of Orchards website or these channels, or any other website that may be accessed from its website or these channels, shall not be deemed incorporated by reference in any filing under the Securities Act of 1933.

Forward-Looking StatementsThis press release contains certain forward-looking statements about Orchards strategy, future plans and prospects, which are made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. Forward-looking statements include express or implied statements relating to, among other things, Orchards business strategy and goals, and the therapeutic potential of Orchards product candidates, including the product candidate or candidates referred to in this release. These statements are neither promises nor guarantees and are subject to a variety of risks and uncertainties, many of which are beyond Orchards control, which could cause actual results to differ materially from those contemplated in these forward-looking statements. In particular, these risks and uncertainties include, without limitation: the severity of the impact of the COVID-19 pandemic on Orchards business, including on clinical development and commercial programs; the risk that any one or more of Orchards product candidates, including the product candidate or candidates referred to in this release, will not be approved, successfully developed or commercialized; the risk of cessation or delay of any of Orchards ongoing or planned clinical trials; the risk that Orchard may not successfully recruit or enroll a sufficient number of patients for its clinical trials; the risk that prior results, such as signals of safety, activity or durability of effect, observed from preclinical studies or clinical trials will not be replicated or will not continue in ongoing or future studies or trials involving Orchards product candidates; the delay of any of Orchards regulatory submissions; the failure to obtain marketing approval from the applicable regulatory authorities for any of Orchards product candidates or the receipt of restricted marketing approvals; and the risk of delays in Orchards ability to commercialize its product candidates, if approved. Given these uncertainties, the reader is advised not to place any undue reliance on such forward-looking statements.

Other risks and uncertainties faced by Orchard include those identified under the heading "Risk Factors" in Orchards quarterly report on Form 10-Q for the quarter ended June 30, 2020, as filed with the U.S. Securities and Exchange Commission (SEC), as well as subsequent filings and reports filed with the SEC. The forward-looking statements contained in this press release reflect Orchards views as of the date hereof, and Orchard does not assume and specifically disclaims any obligation to publicly update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as may be required by law.

*Patient was treated by the Royal Manchester Childrens Hospital (RMCH) under a Specials license, granted by the UK government for the use of an unlicensed pharmaceutical product in situations of high unmet need when there is no other treatment option available. Orchard holds the license to the MPS-IIIA investigational gene therapy product (OTL-201) and is funding the ongoing proof-of-concept clinical trial being conducted at RMCH, which utilizes the same technology and procedures that were used to treat this first MPS-IIIA patient.

Contacts

InvestorsRenee LeckDirector, Investor Relations+1 862-242-0764Renee.Leck@orchard-tx.com

MediaMolly CameronManager, Corporate Communications+1 978-339-3378media@orchard-tx.com

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Orchard Therapeutics Announces Clinical Data Presentations at the 46th Annual Meeting of the European Society for Blood and Marrow Transplantation...

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Gene Therapy Market 2020 Industry Recent Developments, Size, Emerging Trends, Growth, Progression Status, Latest Technology, and Forecast Research…

August 24th, 2020 9:56 pm

Impact Analysis of Covid-19

The complete version of the Report will include the impact of the COVID-19, and anticipated change on the future outlook of the industry, by taking into the account the political, economic, social, and technological parameters.

Gene Therapy market reports provides a comprehensive overview of the global market size and share. Gene Therapy market data reports also provide a 5 year pre-historic and forecast for the sector and include data on socio-economic data of global. Key stakeholders can consider statistics, tables & figures mentioned in this report for strategic planning which lead to success of the organization.

Request A FREE Sample Copy Gene Therapy Market Report Click here: https://www.coherentmarketinsights.com/insight/request-sample/1774

Gene Therapy manufacturers and is a valuable source of guidance and direction for companies and individuals interested in the industry. The Gene Therapy Market report also presents the vendor landscape and a corresponding detailed analysis of the major competitive vendors operating in the market. The report also covers segment data, including type segment, industry segment, channel segment, etc. cover different segment market size, both volume and value. The compilation also covers information about clients from different industries, which is very important for the manufacturers.

Market Overview:

The global Gene Therapy Market research report describes the growth and trend of the market in detail, segmenting the global market based on the type and format of the product, the technology used, consumer applications segments product, its end-users, applications, and others of the market; additionally of the Global Gene Therapy Market.

This Gene Therapy Market report contains all aspects that are directly or indirectly related to the multiple areas of the global market. Our experts have carefully collated the global Gene Therapy Market data and estimated the change in the forecast period. This information in the report helps customers make accurate decisions about market activity Gene Therapy Market based on forecasting trends. This report also discusses current or future policy research or regulations that must be initiated by management and market strategies.

Competitive Section

Key players operating the Gene Therapy market are GlaxoSmithKline plc, Bluebird Bio, Inc., Adaptimmune Therapeutics plc, Celgene Corporation, Shanghai Sunway Biotech Co. Ltd., Merck KGaA, Transgene SA, and OncoGenex Pharmaceuticals, Inc.

Report Highlights: Detailed overview of parent market, Changing market dynamics in the industry, In-depth market segmentation, Historical, current and projected market size in terms of volume and value, Recent industry trends and developments, Competitive landscape, Strategies of key players and products offered, Potential and niche segments, geographical regions exhibiting promising growth, A neutral perspective on market performance, Must-have information for market players to sustain and enhance their market footprint

Regions Mentioned In The Gene Therapy Market Report:

North America ( United States)

Europe ( Germany, France, UK)

Asia-Pacific ( China, Japan, India)

Latin America ( Brazil)

The Middle East & Africa

The Scope of Gene Therapys Market report:

Global market size, supply, demand, consumption, price, import, export, macroeconomic analysis, type, and application segment information by region.

Industry chain analysis, raw material and end-users information

Global key players information including SWOT analysis, companys financial figures, Laser Marking Machine figures of each company are covered.

Powerful market analysis tools used in the report include Porters five forces analysis, PEST analysis, drivers and restraints, opportunities, and threatens.

Based year in this report is 2019; the historical data is from 2014 to 2018 and the forecast year is from 2020 to 2026.

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The Gene Therapys Market Report is Prepared with the Main Agenda to Cover the following points:

Market Size side-effect Categories

Market patterns

Manufacturer Landscape

Distributor Landscape

Valuing Analysis

Top 10 company AnalysisI. Product BenchmarkingII. Product DevelopmentsIII. Mergers and Acquisition Analysis

Patent AnalysisI. Request Analysis ( By Revenue and Volume )II. Country level Analysis (15+)

Excerpt of the overall industry AnalysisI. Product Chain AnalysisII. Production network AnalysisIII. Current and Future Market Landscape AnalysisIV. Opportunity AnalysisV. Income and Volume Analysis

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Marketing Strategy Analysis, Distributors/Traders Analysis of Gene Therapy Market

Various marketing channels like direct and indirect marketing are portrayed in Gene Therapy market report. Important marketing strategical data, Marketing Channel Development Trend, Pricing Strategy, Market Positioning, Target Client Brand Strategy, and Distributors/Traders List.

About Us:

Coherent Market Insights is a global market intelligence and consulting organization focused on assisting our plethora of clients achieve transformational growth by helping them make critical business decisions. We are headquartered in India, having office at global financial capital in the U.S. and sales consultants in United Kingdom and Japan. Our client base includes players from across various business verticals in over 150 countries worldwide. We pride ourselves in catering to clients across the length and width of the horizon, from Fortune 500 enlisted companies, to not-for-profit organization, and startups looking to establish a foothold in the market. We excel in offering unmatched actionable market intelligence across various industry verticals, including chemicals and materials, healthcare, and food & beverages, consumer goods, packaging, semiconductors, software and services, Telecom, and Automotive. We offer syndicated market intelligence reports, customized research solutions, and consulting services.

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Gene Therapy Market 2020 Industry Recent Developments, Size, Emerging Trends, Growth, Progression Status, Latest Technology, and Forecast Research...

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A bright future for genomics and gene therapy in the UK – Health Service Journal

August 24th, 2020 9:55 pm

This is paid-for content from our commercial partners.Find out more

So-called scientific breakthroughs are often in the headlines, but in reality, ground-breaking medical innovations adhere to a slow process characterised by cautious clinical experimentation and gradual but continuous improvement before reaching patients. After years of effort, gene therapy looks set to become a routine medical approach to address serious unmet medical need.

Sponsored by

There are two types of gene therapy approved for commercial use today. The first, in vivo, uses a modified virus, administered directly into the body to correct the target cells original genetic defect. The second, ex vivo, takes the patients own cells away from their body for genetic modification with a virus and then puts them back into the patient. Ex vivo gene therapy is dominated by two cell types; CD34+ haematopoietic stem cells (bone marrow stem cells) that can be modified to correct certain genetic disorders, and cytotoxic T-cells that can be altered and trained to kill cancerous cells.

The cell and gene therapy industry in the UK is supported by the formation and growth of many companies with promising assets in clinical development. This thriving biotech community is also supported by a robust and prosperous contingent of specialist manufacturing companies. These companies were key to the recent national covid-19 vaccine manufacturing response because the process for making genetically modified adenovirus such as the SARs-COV-02 vaccine, (as developed at the Oxford University Jenner Institute), is very similar to the process for making viruses for gene therapy.

UK leadership in gene therapy is no accident. As specified in our National Industrial Strategy, the UKs many research councils, in particular the Medicines Research Council, are active in funding the development and translation of treatments. In the UK right now, there are approximately 127 clinical trials testing new cell and gene therapy medicines, which represents 12 per cent of the global total. The government is readying the NHS to support these trials and transition these treatments into more common use through funding of the Advanced Therapy Treatment Centres (ATTC), a multiyear multi-million-pound project coordinated by the Cell and Gene Therapy Catapult and comprising centres of excellence throughout the UK.

In the UK right now, there are approximately 127 clinical trials testing new cell and gene therapy medicines, which represents 12 per cent of the global total. The government is readying the NHS to support these trials

The ATTCs aim to develop and harmonise adoption of the one and done treatment paradigm by developing the appropriate frameworks and systems to support clinical adoption of these novel therapies. The ATTCs and the NHS are also working in partnership to develop novel medicines assessment and reimbursement paradigms which fairly recognise the ultra-long-term medical benefits that can accrue from a one-time gene therapy treatment. Increased adoption of gene therapy, which is proving to be an approach that can reduce the long-term healthcare burden of chronic disease management, has the potential to significantly lighten the NHS resources required for support of several chronic conditions.

As a future example of the UK commitment to gene therapies, we are also leading the practical application of genetic sequencing (genomics). Formation of the National Genomic Test Directory and support for the 100,000 genomes project by Genomics England are critical steps to improve the diagnosis of patients and identification of a new wave of one-off treatments that could be capable of delivering long-term clinical benefit.

Cell and gene therapies are a revolution in medicine and have even been described as the future of the healthcare system. When you consider that 80 per cent of rare diseases have a genetic component, these treatments could transform the prospects of thousands of people living with these conditions, creating a more economically sustainable and brighter future for them and their families.

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A bright future for genomics and gene therapy in the UK - Health Service Journal

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Gene Therapy: IT Meets Medicine, But Who Is In Charge? – Walter Bradley Center for Natural and Artificial Intelligence

August 24th, 2020 9:55 pm

Jay Richards talked recently with Matt Scholz, Founder & CEO of Oisn Biotechnologies, about the challenges and promises of the information theory of biotech, especially as related to medicine:

The panel in which Scholz participated at COSM 2019 focused on how artificial intelligence can make a difference in medicine:

From the interview:

Jay Richards: So how would you distill this panel? It was you and Babak Parviz, formerly of Google Glass and now from Amazon (and formerly Google Glass) and Lindy Fishburne, whos on the funding side of information technology and biology.

Matt Scholz: The panel was put together ranging from the computational side of it to the actual therapeutic side and finance. So I think that made it a pretty interesting conversation really, because, to a great extent were working towards the same goals, but from very different angles.

Scholz spoke about his work in gene therapy:

Matt Scholz: What Im working on is, in some respects, the most literal amalgamation of information in life. Like were actually rewriting information in life; its gene therapy. But for the most part, I think the expertise on information and medicine is more on how do you analyze conditions and symptoms, make diagnoses, predict outcomes, that kind of thing.

Note: From the National Institutes of Heath: Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patients cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including:

Replacing a mutated gene that causes disease with a healthy copy of the gene.

Inactivating, or knocking out, a mutated gene that is functioning improperly.

Introducing a new gene into the body to help fight a disease.

Although gene therapy is a promising treatment option for a number of diseases (including inherited disorders, some types of cancer, and certain viral infections), the technique remains risky and is still under study to make sure that it will be safe and effective. Gene therapy is currently being tested only for diseases that have no other cures.

Jay Richards: A lot of people ask questions about the problems of the regulatory regime in dealing with some of this new stuff. Whats your opinion in terms of, if there was a single primary impediment to real breakthroughs in this area, is it regulation? Is it just the toughness of the subject? Is it something else?

Matt Scholz: Well, I think the regulation in medicine is considerable both in the time and expense it takes, but I dont think its the primary impediment to anything. In fact, I think particularly in gene therapy, the regulators have been very responsive to changes in technology.

Note: Gene therapy has shown some success with muscular dystrophy (NPR, July 27, 2020), for example, and is an approved treatment for thalassemia (LaBiotech.eu, April 6, 2019). On the other hand, a gene therapy for treatment of hemophilia has been delayed, following questions around how long it lasts (STAT, August 20, 2020) The FDA has been expecting a surge of gene therapy trials (Pharmaceutical Technology, February 5, 2019).

Matt Scholz: Building new treatments in biology is the science itself is hard and the tools we use to build it are clumsy. And so for most of human history, we use mashed up plants to treat diseases, and moving to building viruses and ex vivo cell therapies and manipulating DNA is largely uncharted territory. The regulators have been, Id say, doing an admirable job really, trying to stay on top of those changes and interact with people building them. With that said, obviously, if you want to have a system that takes you a decade to get a drug approved

Jay Richards: Thats what we have.

Matt Scholz: it will cost time and money. And I think theres great conversations that could be had about how we weigh the risk of a drug versus the risk of a disease. And the balance weve struck gives us the system we have today. And its pretty comfortable to think, Okay, well, theres smart people at the FDA who are making sure I dont get things that are dangerous, but if youre dying of a disease

Jay Richards: The cost benefit changes.

Matt Scholz: Yeah, its very different. And I think it may be in some respects, less of what could be done about the regulatory environment as to what can be done to empower the patient. Because right now, the one person who has no say in healthcare is the patient. The bottom of the totem pole.

Jay Richards: Its the same thing with the economics of healthcare. Its a third-party payer problem, but if youre a patient, you actually dont know what the price of the services that youre getting is, thats the problem.

Matt Scholz: Its totally wild, and I think the patient should have the right to be the arbitrator of what goes into their body and not just be subject to the winds of the system. It shouldnt be that what the doctor says, the insurance company says, or even what the FDA says in that respect.

Its there for a reason. We know why these things exist, but its easy to imagine circumstances where you would have a very different perspective on risk and reward. And I would love to see the patients get more power.

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Gene Therapy: IT Meets Medicine, But Who Is In Charge? - Walter Bradley Center for Natural and Artificial Intelligence

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Functioning liver cells regenerate in pig lymph nodes, and a human trial is coming – FierceBiotech

August 24th, 2020 9:55 pm

Hepatocytes in the liver can naturally regenerate, provided the organ is completely healthy. But when the liver is diseased, it has too much scar tissue to nurture the environment hepatocytes need to replenish themselves.

In a new study published in Liver Transplantation, researchers led by the University of Pittsburgh School of Medicine demonstrated that pigs can grow functioning livers in their abdominal lymph nodes after their own hepatocytes are isolated and injected into them. A startup founded by three of the researchers, LyGenesis, is working to bring the method into human clinical trials.

Senior author Eric Lagasse, Ph.D., associate professor of pathology at Pitt, first demonstrated a decade ago that healthy liver cells injected into the lymph nodes of mice with malfunctioning livers would regenerate and take over normal liver functions. To further prove out the concept, Lagasse wanted to replicate the work in a larger model.

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So Lagasse and his team took pieces of healthy liver tissue from six pigs while at the same time cutting off the main blood supply to the organ. They then injected the cells into abdominal lymph nodes. All six animals were able to regain normal liver functions, they reported.

When they examined the lymph nodes, the researchers discovered a plentiful supply of hepatocytes, along with bile ducts and vasculature that had formed in the transplanted cells.

"It's all about location, location, location," Lagasse said in a statement. "If hepatocytes get in the right spot and there is a need for liver functions, they will form an ectopic liver in the lymph node."

RELATED: Liver-focused Ambys launches with $140M, Takeda partnership

Regenerative approaches to treating liver disease have generated enthusiasm among private investors. In 2018, for example, Third Rock Ventures launched Ambys Medicines, which is developing both cell and gene therapy approaches to regenerating hepatocytes.

LyGenesis, which was founded in 2017, got a major boost in May of the following year when it pulled in $3 million in a series A round from Juvenescence, a U.K.-based fund that has raised $165 million to support longevity-focused companies. In October of last year, Juvenescence and Longevity Vision Fund handed LyGenesis another $4 million in private financing and convertible notes.

LyGenesis is gearing up to start a phase 2a clinical trial of its technique in people with end-stage liver disease later this year.

The new animal study follows previous work by Lagasse and colleagues demonstrating that liver tissue grown in the lymph nodes of pigs with a form of genetic liver disease could treat the condition effectively. The researchers believe the technique could ultimately help people with a wide range of liver-damaging diseases, including hepatitis and alcoholism.

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Functioning liver cells regenerate in pig lymph nodes, and a human trial is coming - FierceBiotech

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Fact.MR Presents New Report Hemophilia Gene Therapy Market, 2018 and Analysis to 2028 – The Cloud Tribune

August 24th, 2020 9:55 pm

Fact.MR has adopted multi-disciplinary approach to shed light on the evolution of the globalHemophilia Gene Therapymarket. The study presents a deep-dive assessment of the current growth dynamics, major avenues in the estimation year of 2019, and key prospects over the forecast period2018 2028.

Extensive rounds of primary and a comprehensive secondary research have been leveraged by the analysts at Fact.MR to arrive at various estimations and projections of the Hemophilia Gene Therapy market, both at global and regional levels. The analysts have used numerous industry-wide prominent business intelligence tools to consolidate facts, figures, and market data into revenue estimations and projections in the Hemophilia Gene Therapy market.

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After reading the Hemophilia Gene Therapy market report, readers get insight into:

The Hemophilia Gene Therapy market report offers assessment of prevailing opportunities in various regions and evaluates their shares of revenue by the end of different years of the assessment period. Key regions covered comprise:

The evaluation of the competitive landscape in the Hemophilia Gene Therapy market covers the profile of the following top players:

Hoffmann-La Roche AG, Pfizer Inc., BioMarin Pharmaceuticals, uniQure, Shire PLC, Sangamo Therapeutics, among others.

Tentatively, Hemophilia Gene therapy Market has been segmented on the basis of product type.

On the basis of Indication, Hemophilia Gene therapy Market can be segmented as:

Global Hemophilia Gene therapy Market will witness advancement due to the rising population suffering from hemophilia. According to national institute of hemophilia approximately 20,000 people in U.S. and 400,000worldwide are suffering from hemophilia. The National hemophilia foundation is awarding grants to further support the research for Hemophilia Gene therapy which will in turn help in the treatment of hemophilia. The biopharmaceutical manufacturers and research centers are working together to understand the genetics of hemophilia and improve Hemophilia Gene therapy which could help in treatment of hemophilia in the future. Manufacturers such as Roche has recently acquired Spark Therapeutics for its long term investment hemophilia A gene therapy market. Also many drugs for hemophilia gene therapy are in clinical trials. The continuous investment and research by the manufacturers is expected to improve the hemophilia gene therapy market in the coming future. Also Hemophilia Gene therapy assures to address the unmet needs by one time administration which will further improve its severity. However the arrival of Hemophilia Gene therapy is a concern over its affordability and accessibility.

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Exclusive offer!!! Get the full report at a discounted rate!!!

The global Hemophilia Gene Therapy market report offers detailed assessments and quantitative evaluations that shed light on numerous key aspects that have shaped its evolution over the historical period. In coming years, some of the key aspects that will shape the growth prospects during the forecast period are objectively covered in the study.

Some important questions that the Hemophilia Gene Therapy market report tries to answer exhaustively are:

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Fact.MR Presents New Report Hemophilia Gene Therapy Market, 2018 and Analysis to 2028 - The Cloud Tribune

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Global Gene Therapy for Retinal Diseases Market Research Report 2020 Applied Genetic Technologies Corporation, Adverum Biotechnologies, ProQR…

August 24th, 2020 9:55 pm

InsightAce Analytic Pvt. Ltd. announces the release of market assessment report on Global Gene Therapy for Retinal Diseases Market Assessment Revenue (US$ Mn) Forecast Till 2030

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According to the latest research by InsightAce Analytic, the global market for gene therapy for retinal diseases was valued at US$ XX Mn and it is expected to reach US$ XX million in 2030, recording a promising CAGR of XX% during the period of 2020-2030.

The most common approach for retinal gene therapy is delivering the normal gene to the retinal cells using a vector, a modified virus engineered to not proliferate or cause structural damage. The genetic retinal disorders can cause blindness or severe vision loss. These disorders are caused due to mutation of genes. The gene therapy helps to stop or slow down progress of retinal disorders. In the recent years, gene therapy for genetic retinal diseases have made major advances. The therapy enhancing cell specific targeting and augmenting the therapeutic effect and limit death of cell. The growing adoption of gene therapy for retinal disorders such as Choroideremia (CHM), Leber congenital amaurosis, Lebers hereditary optic neuropathy, X-linked retinitis pigmentosa etc. is expected to propel the growth of market in the coming future. The growing research activities to develop gene therapy for retinal diseases is expected to propel the growth of market in the coming years.

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Global gene therapy for retinal diseases market reports covers prominent players such as Applied Genetic Technologies Corporation, Adverum Biotechnologies, ProQR Therapeutics, MeiraGTx Limited., Oxford BioMedica, Horama S.A., Gensight Biologics, Regenxbio Inc., Spark Therapeutics, Inc., Genzyme (Sanofi), Novartis Pharmaceuticals, Nightstar Therapeutics (Biogen), Allergan, and Hemera Biosciences among others.

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Global Gene Therapy for Retinal Diseases Market Research Report 2020 Applied Genetic Technologies Corporation, Adverum Biotechnologies, ProQR...

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Auxolytic’s Nutrient-Based Shut-Off Switch Boosts Cell Therapy Safety Without Transgenes – BioSpace

August 24th, 2020 9:55 pm

Auxolytic has developed a nutrient-based safety-switch for cell therapies that doesnt rely on introducing transgenes. The process, auxotrophy, uses the engineered inability of an organism to synthesize a compound required for its survival to allow physicians to turn off a gene therapy if serious side effects develop.

The work currently is in preclinical phases, in humanized cells in mice, and appears promising. When it advances to clinical applications, patients receiving cell therapies (such as CAR T, stem cell, and TCR therapies) containing this safety switch would be given supplements of a particular nutrient uridine, in this case. If the cell therapy went awry, patients could simply stop taking the uridine supplement and the cellular therapy would cease to function.

A paper published in Nature Biotechnology describes how the off switch could be engineered into cell therapies. Basically, it says, the approach knocks out the gene that disrupt(s) uridine monophosphate synthetase (UMPS) in the pyrimidine de novo synthesis pathway in cell lines, pluripotent cells, and primary human T cells.

This knockout makes proliferation of the cell therapy dependent on the external supply of uridine. Therefore, researchers can control cell growth by modulating the uridine supply in vitro and, importantly, in vivo after transplantation.

In the movie Jurassic Park, the dinosaurs were engineered to need lysine. If they escaped, there was no lysine to keep them alive. This therapy is very similar, founder and CEO James Patterson, M.D., Ph.D., told BioSpace.

Rather than lysine, Auxolytic uses uridine as the controlling nutrient. Uridine is important in carbohydrate metabolism and is found in yeast, tomatoes, broccoli, sugarcane and other foods, and also can be produced by the body when inadequate amounts are consumed in the diet.

The quantities available through the diet or produced by the body, however, arent high enough to sustain the engineered cells, Patterson said. Evidence comes from a rare genetic disease, orotic aciduria. Patients with that condition have a mutation in the UMPS gene that causes them to produce insufficient levels of the enzyme that breaks down orotic acid. They often die at very young ages if not supplied with quantities of pure uridine. This shows that a normal diet wont compensate.

Patients of cell therapies that incorporate Auxolytics nutrient-based safety switch likely would be able to eat their usual foods, but with nuridine added as a supplement. The approach Dr. Patterson developed hasnt been tested in patients yet.

This is the same nutrient I worked with in yeast, but now in human cells, Patterson said. Early work shows that only the engineered cell therapy would be affected by uridine modulation. Within one week of withdrawing the uridine, the engineered cells were inactive and unable to proliferate. Normal cells continued to function as usual.

At age 27, Patterson already has worked with many of the thought leaders in medicine and biomedical research while pursuing his M.D. and Ph.D. degrees at the University of Cambridge and the Francis Crick Institute. Beginning early during his university days, he performed research placements at the University of Zurich, The Gurdon Institute, The Whitehead Institute and The Cambridge Stem Cell Initiative.

This nutrient-based approach to controlling cell therapy is the direct result of that body of experience.

During my M.D./Ph.D. training, I became interested in cell therapy and its potential for curing patients, but there were safety risks. My Ph.D. work focused on yeast biology, studying how cells control their size. There, the idea of nutrient-based cell control was commonplace, but no one was working on this in human cells, he said. I became interested in science when I was very young, so during my undergraduate work I made sure I was thinking about the science being done in the labs in addition to what I was learning in lectures. Theres a difference.

Lectures lay the scientific foundation, but lab work is cutting-edge and forward-thinking.

I started working in labs when I was 19 in Zurich. I spent all my summers working in labs, asking a range of questions and working in lots of different systems, Patterson said.

Such broad exposure proved foundational for Auxolytic.

As you can see, this is a yeast technology. Thats not where you usually go to look for cell therapy ideas, he added.

He advises students early on to get into exciting labs that are doing interesting, fundamental science. Ask basic questions of how cells work, for example. You never know what youll find that could be applicable to the clinic. Jumping to clinical research (too early) causes you to lose the blue sky thinking.

Auxotyic, based in Cambridge, UK, is, for now, a virtual company of onebut with ample advisors.

Theyve helped along the way in the academic sector and also in the management of business, Patterson said. Those mentors include seasoned industry veterans who know what it takes to take a drug from bench to bedside, and who understand patenting and licensing.

The next step for Auxolytic, scientifically, is to identify potential applications around selecting for differentiated cells from induced pluripotent stem cells (iPSCs). Much of the scientific work is being done in collaboration with the Matthew H. Porteus lab at Stanford University.

On the business side, he continued, Were excited to get this into the hands of big cell therapy companies that currently are making cell therapies without a safety switch. Were looking to partner with them to get this to patients.

Auxolytic is talking with several interested companies. People recognize the need for a safety switch and are very excited, Patterson said. Discussions are going well.

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Canavan Disease Therapeutics Market Detailed Analysis of Current Industry Figures With Forecasts Growth by 2026|Gene Therapy, Recombinant Enzyme,…

August 24th, 2020 9:55 pm

Canavan Disease Therapeutics Market

Los Angeles, United State:The research study presented here is a brilliant compilation of different types of analysis of critical aspects of the global Canavan Disease Therapeutics market. It sheds light on how the global Canavan Disease Therapeutics Market is expected to grow during the course of the forecast period. With SWOT analysis and Porters Five Forces analysis, it gives a deep explanation of the strengths and weaknesses of the global Canavan Disease Therapeutics market and different players operating therein. The authors of the report have also provided qualitative and quantitative analyses of several microeconomic and macroeconomic factors impacting the global Canavan Disease Therapeutics market. In addition, the research study helps to understand the changes in the industry supply chain, manufacturing process and cost, sales scenarios, and dynamics of the global Canavan Disease Therapeutics market.

Each player studied in the report is profiled while taking into account its production, market value, sales, gross margin, market share, recent developments, and marketing and business strategies. Besides giving a broad study of the drivers, restraints, trends, and opportunities of the global Canavan Disease Therapeutics market, the report offers an individual, detailed analysis of important regions such as North America, Europe, and the Asia Pacific. Furthermore, important segments of the global Canavan Disease Therapeutics market are studied in great detail with a key focus on their market share, CAGR, and other vital factors.

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Canavan Disease Therapeutics Market Leading Players

The global Canavan Disease Therapeutics market size is projected to reach US$ XX million by 2026, from US$ XX million in 2020, at a CAGR of XX% during 2021-2026. This report focuses on Canavan Disease Therapeutics volume and value at the global level, regional level and company level. From a global perspective, this report represents overall Canavan Disease Therapeutics market size by analysing historical data and future prospect. Regionally, this report focuses on several key regions: North America, Europe, Japan, China, Southeast Asia, India, etc. Global Canavan Disease Therapeutics Market: Segment Analysis The research report includes specific segments by region (country), by company, by Type and by Application. This study provides information about the sales and revenue during the historic and forecasted period of 2015 to 2026. Understanding the segments helps in identifying the importance of different factors that aid the market growth. Global Canavan Disease Therapeutics Market: Regional Analysis The research report includes a detailed study of regions of North America, Europe, Asia Pacific, Latin America, and Middle East and Africa. The report has been curated after observing and studying various factors that determine regional growth such as economic, environmental, social, technological, and political status of the particular region. Analysts have studied the data of revenue, sales, and manufacturers of each region. This section analyses region-wise revenue and volume for the forecast period of 2015 to 2026. These analyses will help the reader to understand the potential worth of investment in a particular region. Global Canavan Disease Therapeutics Market: Competitive Landscape This section of the report identifies various key manufacturers of the market. It helps the reader understand the strategies and collaborations that players are focusing on combat competition in the market. The comprehensive report provides a significant microscopic look at the market. The reader can identify the footprints of the manufacturers by knowing about the global revenue of manufacturers, the global price of manufacturers, and sales by manufacturers during the forecast period of 2015 to 2019. Following are the segments covered by the report are:, Gene Therapy, Recombinant Enzyme, TUR-007, Others By Application:, Clinic, Hospital, Others Key Players: The Key manufacturers that are operating in the global Canavan Disease Therapeutics market are:, Pfizer Inc, Turing Pharmaceuticals AG, Competitive Landscape The analysts have provided a comprehensive analysis of the competitive landscape of the global Canavan Disease Therapeutics market with the company market structure and market share analysis of the top players. The innovative trends and developments, mergers and acquisitions, product portfolio, and new product innovation to provide a dashboard view of the market, ultimately providing the readers accurate measure of the current market developments, business strategies, and key financials.

Canavan Disease Therapeutics Segmentation by Product

The global Canavan Disease Therapeutics market size is projected to reach US$ XX million by 2026, from US$ XX million in 2020, at a CAGR of XX% during 2021-2026. This report focuses on Canavan Disease Therapeutics volume and value at

Canavan Disease Therapeutics Segmentation by Application

The global Canavan Disease Therapeutics market size is projected to reach US$ XX million by 2026, from US$ XX million in 2020, at a CAGR of XX% during 2021-2026. This report focuses on Canavan Disease Therapeutics volume and value at the global level, regional level and company level. From a global perspective, this report represents overall Canavan Disease Therapeutics market size by analysing historical data and future prospect. Regionally, this report focuses on several key regions: North America, Europe, Japan, China, Southeast Asia, India, etc. Global Canavan Disease Therapeutics Market: Segment Analysis The research report includes specific segments by region (country), by company, by Type and by Application. This study provides information about the sales and revenue during the historic and forecasted period of 2015 to 2026. Understanding the segments helps in identifying the importance of different factors that aid the market growth. Global Canavan Disease Therapeutics Market: Regional Analysis The research report includes a detailed study of regions of North America, Europe, Asia Pacific, Latin America, and Middle East and Africa. The report has been curated after observing and studying various factors that determine regional growth such as economic, environmental, social, technological, and political status of the particular region. Analysts have studied the data of revenue, sales, and manufacturers of each region. This section analyses region-wise revenue and volume for the forecast period of 2015 to 2026. These analyses will help the reader to understand the potential worth of investment in a particular region. Global Canavan Disease Therapeutics Market: Competitive Landscape This section of the report identifies various key manufacturers of the market. It helps the reader understand the strategies and collaborations that players are focusing on combat competition in the market. The comprehensive report provides a significant microscopic look at the market. The reader can identify the footprints of the manufacturers by knowing about the global revenue of manufacturers, the global price of manufacturers, and sales by manufacturers during the forecast period of 2015 to 2019. Following are the segments covered by the report are:, Gene Therapy, Recombinant Enzyme, TUR-007, Others By Application:, Clinic, Hospital, Others Key Players: The Key manufacturers that are operating in the global Canavan Disease Therapeutics market are:, Pfizer Inc, Turing Pharmaceuticals AG, Competitive Landscape The analysts have provided a comprehensive analysis of the competitive landscape of the global Canavan Disease Therapeutics market with the company market structure and market share analysis of the top players. The innovative trends and developments, mergers and acquisitions, product portfolio, and new product innovation to provide a dashboard view of the market, ultimately providing the readers accurate measure of the current market developments, business strategies, and key financials.

Table of Contents

Industry Overview: The first section of the research study touches on an overview of the global Canavan Disease Therapeutics market, market status and outlook, and product scope. Additionally, it provides highlights of key segments of the global Canavan Disease Therapeutics market, i.e. regional, type, and application segments.

Competition Analysis: Here, the report brings to light important mergers and acquisitions, business expansions, product or service differences, market concentration rate, the competitive status of the global Canavan Disease Therapeutics market, and market size by player.

Company Profiles and Key Data: This section deals with the company profiling of leading players of the global Canavan Disease Therapeutics market on the basis of revenue, products, business, and other factors mentioned earlier.

Market Size by Type and Application: Besides offering a deep analysis of the size of the global Canavan Disease Therapeutics market by type and application, this section provides a study on top end users or consumers and potential applications.

North America Market: Here, the report explains the changes in the market size of North America by application and player.

Europe Market: This section of the report shows how the size of the Europe market will change in the next few years.

China Market: It gives an analysis of the China market and its size for all the years of the forecast period.

Rest of Asia Pacific Market: The Rest of Asia Pacific market is analyzed in quite some detail here on the basis of application and player.

Central and South America Market: The report explains the changes in the size of the Central and South America market by player and application.

MEA Market: This section shows how the size of the MEA market will change during the course of the forecast period.

Market Dynamics: Here, the report deals with the drivers, restraints, challenges, trends, and opportunities of the global Canavan Disease Therapeutics market. This section also includes Porters Five Forces analysis.

Research Findings and Conclusion: It gives powerful recommendations for new as well as established players for securing a position of strength in the global Canavan Disease Therapeutics market.Methodology and Data Source: This section includes the authors list, a disclaimer, research approach, and data sources.

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Key Questions Answered

What will be the size and CAGR of the global Canavan Disease Therapeutics market in the next five years?

Which segment will take the lead in the global Canavan Disease Therapeutics market?

What has the average manufacturing cost?

What are the key business tactics adopted by top players of the global Canavan Disease Therapeutics market?

Which region will secure a lions share of the global Canavan Disease Therapeutics market?

Which company will show dominance in the global Canavan Disease Therapeutics market?

Table of Contents

1 Canavan Disease Therapeutics Market Overview1.1 Product Overview and Scope of Canavan Disease Therapeutics1.2 Canavan Disease Therapeutics Segment by Type1.2.1 Global Canavan Disease Therapeutics Sales Growth Rate Comparison by Type (2021-2026)1.2.2 Gene Therapy1.2.3 Recombinant Enzyme1.2.4 TUR-0071.2.5 Others1.3 Canavan Disease Therapeutics Segment by Application1.3.1 Canavan Disease Therapeutics Sales Comparison by Application: 2020 VS 20261.3.2 Clinic1.3.3 Hospital1.3.4 Others1.4 Global Canavan Disease Therapeutics Market Size Estimates and Forecasts1.4.1 Global Canavan Disease Therapeutics Revenue 2015-20261.4.2 Global Canavan Disease Therapeutics Sales 2015-20261.4.3 Canavan Disease Therapeutics Market Size by Region: 2020 Versus 20261.5 Canavan Disease Therapeutics Industry1.6 Canavan Disease Therapeutics Market Trends 2 Global Canavan Disease Therapeutics Market Competition by Manufacturers2.1 Global Canavan Disease Therapeutics Sales Market Share by Manufacturers (2015-2020)2.2 Global Canavan Disease Therapeutics Revenue Share by Manufacturers (2015-2020)2.3 Global Canavan Disease Therapeutics Average Price by Manufacturers (2015-2020)2.4 Manufacturers Canavan Disease Therapeutics Manufacturing Sites, Area Served, Product Type2.5 Canavan Disease Therapeutics Market Competitive Situation and Trends2.5.1 Canavan Disease Therapeutics Market Concentration Rate2.5.2 Global Top 5 and Top 10 Players Market Share by Revenue2.5.3 Market Share by Company Type (Tier 1, Tier 2 and Tier 3)2.6 Manufacturers Mergers & Acquisitions, Expansion Plans2.7 Primary Interviews with Key Canavan Disease Therapeutics Players (Opinion Leaders) 3 Canavan Disease Therapeutics Retrospective Market Scenario by Region3.1 Global Canavan Disease Therapeutics Retrospective Market Scenario in Sales by Region: 2015-20203.2 Global Canavan Disease Therapeutics Retrospective Market Scenario in Revenue by Region: 2015-20203.3 North America Canavan Disease Therapeutics Market Facts & Figures by Country3.3.1 North America Canavan Disease Therapeutics Sales by Country3.3.2 North America Canavan Disease Therapeutics Sales by Country3.3.3 U.S.3.3.4 Canada3.4 Europe Canavan Disease Therapeutics Market Facts & Figures by Country3.4.1 Europe Canavan Disease Therapeutics Sales by Country3.4.2 Europe Canavan Disease Therapeutics Sales by Country3.4.3 Germany3.4.4 France3.4.5 U.K.3.4.6 Italy3.4.7 Russia3.5 Asia Pacific Canavan Disease Therapeutics Market Facts & Figures by Region3.5.1 Asia Pacific Canavan Disease Therapeutics Sales by Region3.5.2 Asia Pacific Canavan Disease Therapeutics Sales by Region3.5.3 China3.5.4 Japan3.5.5 South Korea3.5.6 India3.5.7 Australia3.5.8 Taiwan3.5.9 Indonesia3.5.10 Thailand3.5.11 Malaysia3.5.12 Philippines3.5.13 Vietnam3.6 Latin America Canavan Disease Therapeutics Market Facts & Figures by Country3.6.1 Latin America Canavan Disease Therapeutics Sales by Country3.6.2 Latin America Canavan Disease Therapeutics Sales by Country3.6.3 Mexico3.6.3 Brazil3.6.3 Argentina3.7 Middle East and Africa Canavan Disease Therapeutics Market Facts & Figures by Country3.7.1 Middle East and Africa Canavan Disease Therapeutics Sales by Country3.7.2 Middle East and Africa Canavan Disease Therapeutics Sales by Country3.7.3 Turkey3.7.4 Saudi Arabia3.7.5 U.A.E 4 Global Canavan Disease Therapeutics Historic Market Analysis by Type4.1 Global Canavan Disease Therapeutics Sales Market Share by Type (2015-2020)4.2 Global Canavan Disease Therapeutics Revenue Market Share by Type (2015-2020)4.3 Global Canavan Disease Therapeutics Price Market Share by Type (2015-2020)4.4 Global Canavan Disease Therapeutics Market Share by Price Tier (2015-2020): Low-End, Mid-Range and High-End 5 Global Canavan Disease Therapeutics Historic Market Analysis by Application5.1 Global Canavan Disease Therapeutics Sales Market Share by Application (2015-2020)5.2 Global Canavan Disease Therapeutics Revenue Market Share by Application (2015-2020)5.3 Global Canavan Disease Therapeutics Price by Application (2015-2020) 6 Company Profiles and Key Figures in Canavan Disease Therapeutics Business6.1 Pfizer Inc6.1.1 Corporation Information6.1.2 Pfizer Inc Description, Business Overview and Total Revenue6.1.3 Pfizer Inc Canavan Disease Therapeutics Sales, Revenue and Gross Margin (2015-2020)6.1.4 Pfizer Inc Products Offered6.1.5 Pfizer Inc Recent Development6.2 Turing Pharmaceuticals AG6.2.1 Turing Pharmaceuticals AG Corporation Information6.2.2 Turing Pharmaceuticals AG Description, Business Overview and Total Revenue6.2.3 Turing Pharmaceuticals AG Canavan Disease Therapeutics Sales, Revenue and Gross Margin (2015-2020)6.2.4 Turing Pharmaceuticals AG Products Offered6.2.5 Turing Pharmaceuticals AG Recent Development 7 Canavan Disease Therapeutics Manufacturing Cost Analysis7.1 Canavan Disease Therapeutics Key Raw Materials Analysis7.1.1 Key Raw Materials7.1.2 Key Raw Materials Price Trend7.1.3 Key Suppliers of Raw Materials7.2 Proportion of Manufacturing Cost Structure7.3 Manufacturing Process Analysis of Canavan Disease Therapeutics7.4 Canavan Disease Therapeutics Industrial Chain Analysis 8 Marketing Channel, Distributors and Customers8.1 Marketing Channel8.2 Canavan Disease Therapeutics Distributors List8.3 Canavan Disease Therapeutics Customers 9 Market Dynamics9.1 Market Trends9.2 Opportunities and Drivers9.3 Challenges9.4 Porters Five Forces Analysis 10 Global Market Forecast10.1 Global Canavan Disease Therapeutics Market Estimates and Projections by Type10.1.1 Global Forecasted Sales of Canavan Disease Therapeutics by Type (2021-2026)10.1.2 Global Forecasted Revenue of Canavan Disease Therapeutics by Type (2021-2026)10.2 Canavan Disease Therapeutics Market Estimates and Projections by Application10.2.1 Global Forecasted Sales of Canavan Disease Therapeutics by Application (2021-2026)10.2.2 Global Forecasted Revenue of Canavan Disease Therapeutics by Application (2021-2026)10.3 Canavan Disease Therapeutics Market Estimates and Projections by Region10.3.1 Global Forecasted Sales of Canavan Disease Therapeutics by Region (2021-2026)10.3.2 Global Forecasted Revenue of Canavan Disease Therapeutics by Region (2021-2026)10.4 North America Canavan Disease Therapeutics Estimates and Projections (2021-2026)10.5 Europe Canavan Disease Therapeutics Estimates and Projections (2021-2026)10.6 Asia Pacific Canavan Disease Therapeutics Estimates and Projections (2021-2026)10.7 Latin America Canavan Disease Therapeutics Estimates and Projections (2021-2026)10.8 Middle East and Africa Canavan Disease Therapeutics Estimates and Projections (2021-2026) 11 Research Finding and Conclusion 12 Methodology and Data Source12.1 Methodology/Research Approach12.1.1 Research Programs/Design12.1.2 Market Size Estimation12.1.3 Market Breakdown and Data Triangulation12.2 Data Source12.2.1 Secondary Sources12.2.2 Primary Sources12.3 Author List12.4 Disclaimer

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Canavan Disease Therapeutics Market Detailed Analysis of Current Industry Figures With Forecasts Growth by 2026|Gene Therapy, Recombinant Enzyme,...

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Sorrento Enters Into Merger Agreement to Acquire SmartPharm and Develop Pipeline of Gene-Encoded Therapeutic Antibodies, Starting With Neutralizing…

August 24th, 2020 9:55 pm

SAN DIEGO AND BOSTON, Aug. 20, 2020 (GLOBE NEWSWIRE) -- Sorrento Therapeutics, Inc. (Nasdaq: SRNE, Sorrento) and SmartPharm Therapeutics, Inc. (SmartPharm) announced today the signing of a merger agreement under which Sorrento will acquire SmartPharm, a gene-encoded therapeutics company developing non-viral DNA and RNA gene delivery platforms for COVID-19 and rare diseases with broad potential for application in enhancing antibody-centric therapeutics.

As previously announced on July 24, 2020, Sorrento and SmartPharm entered into a letter of intent setting forth the terms and conditions by which Sorrento would acquire SmartPharm. In consideration for the acquisition, at closing, SmartPharm equity holders will receive up to an aggregate of $19.4 million of shares of Sorrento common stock, subject to certain adjustments, based on a price per share calculated in accordance with the merger agreement.

Sorrento and SmartPharm also previously announced a research and development collaboration to encode and express in vivo Sorrentos proprietary SARS-CoV-2 neutralizing monoclonal antibodies utilizing SmartPharms Gene Mab plasmid nanoparticle platform.

Using SmartPharms technology, Sorrento has identified STI-2020dna (DNA plasmid injection), an antibody encoded DNA plasmid candidate derived from Sorrentos proprietary STI-1499 (COVI-GUARD) and matured and optimized for DNA plasmid delivery to generate antibodies in vivo directed against the SARS-CoV-2 virus and its highly contagious D614G variant. STI-2020dna is currently undergoing preclinical in vivo studies and has the potential to generate long-lasting anti-viral protection with a single intra-muscular administration.

We are very encouraged by the preclinical data generated thus far by our STI-2020dna plasmid candidate against COVID-19, said Henry Ji, Ph.D., CEO of Sorrento Therapeutics. STI-2020dna has the potential to produce potent antibodies in the human body in vivo which may provide an attractive alternative to vaccines that might not be effective against the emerging and highly contagious variants of the virus.

The merger with Sorrento presents a tremendous opportunity to advance our next-generation, non-viral gene therapy technology and combine it with Sorrentos significant R&D and manufacturing capabilities, said Jose Trevejo M.D., Ph.D., CEO of SmartPharm Therapeutics. From the first emergence of this deadly coronavirus, Sorrento has dedicated their resources to the development of multiple countermeasures to COVID-19, including potent antibody candidates. This merger should help accelerate our gene-encoded antibody platform technology (Gene Mab) with the ultimate goal of helping patients affected by this global pandemic as well as other diseases.

The transaction is expected to close in early September 2020, subject to customary closing conditions. If the proposed merger is consummated, the issuance of the shares of Sorrento common stock would be made in accordance with an exemption from the registration requirements of the Securities Act of 1933, as amended (the Securities Act), pursuant to Section 4(a)(2) thereof and Regulation D thereunder. Such shares of Sorrento common stock would not be registered under the Securities Act and could not be offered or sold without registration unless an exemption from such registration is available. This press release does not constitute an offer to sell or the solicitation of an offer to buy, any shares of Sorrento common stock.

About SmartPharm Therapeutics

SmartPharm Therapeutics, Inc. is a privately held, development stage biopharmaceutical company focused on developing next-generation, non-viral gene therapies for the treatment of serious or rare diseases with the vision of creating Biologics from Within. SmartPharm is currently developing a novel pipeline of non-viral, gene-encoded proteins for the treatment of conditions that require biologic therapy such as enzyme replacement and tissue restoration. SmartPharm commenced operations in 2018 and is headquartered in Cambridge, MA, USA. For more information, please visit http://www.smartpharmtx.com.

About Sorrento Therapeutics, Inc.

Sorrento is a clinical stage, antibody-centric, biopharmaceutical company developing new therapies to turn malignant cancers into manageable and possibly curable diseases. Sorrento's multimodal, multipronged approach to fighting cancer is made possible by its extensive immuno-oncology platforms, including key assets such as fully human antibodies ("G-MAB library"), clinical stage immuno-cellular therapies ("CAR-T", "DAR-T"), antibody-drug conjugates ("ADCs"), and clinical stage oncolytic virus ("Seprehvir"). Sorrento is also developing potential coronavirus antiviral therapies and vaccines, including COVIDTRAP, ACE-MAB, COVI-MAB, COVI-GUARD, COVI-SHIELD and T-VIVA-19; and diagnostic test solutions, including COVI-TRACK and COVI-TRACE. Sorrento's commitment to life-enhancing therapies for patients is also demonstrated by our effort to advance a first-in-class (TRPV1 agonist) non-opioid pain management small molecule, resiniferatoxin ("RTX"), and ZTlido (lidocaine topical system) 1.8% for the treatment of post-herpetic neuralgia. RTX is completing a phase IB trial for intractable pain associated with cancer and a phase 1B trial in osteoarthritis patients. ZTlido was approved by the FDA on February 28, 2018.

For more information, visit http://www.sorrentotherapeutics.com

Forward-Looking Statements

This press release and any statements made for and during any presentation or meeting contain forward-looking statements related toSorrento Therapeutics, Inc., under the safe harbor provisions of Section 21E of the Private Securities Litigation Reform Act of 1995 and subject to risks and uncertainties that could cause actual results to differ materially from those projected. Forward-looking statements include statements regarding the proposed acquisition of SmartPharm; the completion of the proposed acquisition of SmartPharm; the potential effects that the acquisition of SmartPharm may have on Sorrentos business and product candidate pipeline; the expected timing for the closing of the transaction; the data read-outs related to ongoing studies for COVID-19 using antibodies and gene-encoded antibodies; the potency and potential blocking capabilities of STI-1499 and STI-2020dna and their respective impact on SARS-CoV-2 and the D614G variant; the expected length of any antiviral protection provided by STI-1499 and STI-2020dna; the potential administration and applications of STI-1499 and STI-2020dna, alone or in combination; the timeline and status of preclinical testing for STI-1499 and STI-2020dna; the potential safety and efficacy of STI-1499 and STI-2020dna; the therapeutic potential of STI-1499 and STI-2020dna for SARS-CoV-2 and COVID-19; the potential costs associated with manufacturing STI-2020dna and other DNA plasmids; Sorrentos ability to produce antibody candidates against pathogens and cancer cells; Sorrentos ability to transition from product development to full scale manufacturing and commercialization; Sorrentos ability to advance SmartPharms intellectual property, including its non-viral gene therapy technology and its gene-encoded platform technology; Sorrentos ability to combine SmartPharms intellectual property, including its non-viral gene therapy technology, with Sorrentos research and development and manufacturing capabilities; and Sorrentos potential position in the anti-viral immunity industry. Risks and uncertainties that could cause our actual results to differ materially and adversely from those expressed in our forward-looking statements, include, but are not limited to: risk that the proposed acquisition of SmartPharm will not occur; risks related to Sorrento's technologies and prospects with newly acquired technologies, including the proposed acquisition of SmartPharm and the utilization of SmartPharms Gene-Encoded Therapeutics (GET) platforms for the treatment and prevention of coronavirus infections and other pathogens and cancer cells; risks related to seeking regulatory approvals and conducting clinical trials; the clinical and commercial success of the treatment and prevention of coronavirus infections using monoclonal antibodies and gene-encoded antibodies; the viability and success of using monoclonal antibodies and gene-encoded antibodies for treatments in anti-viral therapeutic areas, including coronavirus; clinical development risks, including risks in the progress, timing, cost and results of clinical trials and product development programs; risk of difficulties or delays in obtaining regulatory approvals; risks that prior study and trial results may not be replicated in future studies and trials; risks that clinical study results may not meet any or all endpoints of a clinical study and that any data generated from such studies may not support a regulatory submission or approval; risks related to seeking regulatory approvals and conducting clinical trials; risks of manufacturing drug product; risks related to leveraging the expertise of its employees, subsidiaries, affiliates and partners to assist the company in the execution of its strategies; risks related to the global impact of COVID-19 and other risks that are described in Sorrento's most recent periodic reports filed with theSecurities and Exchange Commission, including Sorrento's Annual Report on Form 10-K for the year endedDecember 31, 2019, and subsequent Quarterly Reports on Form 10-Q filed with theSecurities and Exchange Commission, including the risk factors set forth in those filings. Investors are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this release and we undertake no obligation to update any forward-looking statement in this press release except as required by law.

Media and Investor Relations

Alexis Nahama, DVM (SVP Corporate Development)Telephone: 1.858.203.4120Email: mediarelations@sorrentotherapeutics.com

Sorrento and the Sorrento logo are registered trademarks of Sorrento Therapeutics, Inc.

G-MAB, COVI-GUARDTM, COVI-SHIELD, COVIDTRAP, T-VIVA-19, COVI-MAB, ACE-MABTM, COVI-TRACK, COVI-TRACE, Saving-Life and Improving-Life are trademarks of Sorrento Therapeutics, Inc.

ZTlido is a trademark owned by Scilex Pharmaceuticals Inc.

All other trademarks are the property of their respective owners.

2020 Sorrento Therapeutics, Inc. All Rights Reserved.

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Highly Automated Precision Medicine is the Future of Cellular Immunotherapy – Genetic Engineering & Biotechnology News

August 24th, 2020 9:55 pm

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Challenges remain in cell therapy manufacturing optimization and scalability, especially when developing autologous therapies. In a recent GENwebinar, Matthew Hewitt, PhD, head of R&D (a.i.) and clinical development, personalized medicine at Lonza, and Stacey Willard, PhD, director of product management at IsoPlexis, provided an overview of the Cocoon cell therapy manufacturing platform and the IsoLight single-cell proteomics system along with data from case studies.

These next-generation technologies allow for the decentralized manufacturing of novel cell therapies and the complete functional characterization of each single cell in the resultant product. The combination improves end-to-end automation by minimizing the need for human involvement and helps ensure functional potency of the manufactured cell products. To view the on-demand webinar, visit GENengnews.com/IsoLight.

Each cell therapy approach has intricacies. The automated cell therapy manufacturing Cocoon platform is designed to alleviate pain points for patient-scale production. The closed, scalable platform uses a single-use customizable cassette that can accommodate a variety of cell therapy processes.

The environmental shell, cassette, and software are the Cocoons three main units. The dual-zone environmental unit offers a 37C warm temperature proliferation zone for the cells and a 4C refrigerated zone for reagents and waste. The intuitive software is 21 CFR Part 11 compliant and supports quick process modification. The scalable Cocoon tree has a small footprint and allows use of up to eight cassettes for simultaneous clinical trials or commercial production.

To demonstrate the capabilities of the Cocoon system, Hewitt presented a comparison study with a culture bag system for a HER2 lentiviral vector CAR-T process. Results showed higher viability in the Cocoon system as well as an increase in transduction efficiency and the number of transduced cells. Transduced cells expressed similar IFN and TNF, and were comparable in co-culture tumor killing assays.

Combining the IsoLight system with the Cocoon platform allows quantification of the true functional biology of the cell product. Although other analytic approaches provide rich data, they do not reveal single cell functional detail, which facilitates better predictions of potency, durability, and adverse effects.

The IsoLights functional phenotyping is emerging as the standard biomarker in immune medicine, the only functional cellular analysis tool that can uniquely detect predictive high-functional super cells to uncover cellular signals or correlative biomarkers.

The automated IsoLight system is an integrated plug & play hardware and software solution for all IsoPlexis chip products. Willard detailed how the proteomically barcoded chip enables quantification of 30+ proteins simultaneously per cell providing useful, impactful single cell data. Panels exist to measure the secretome, proteome, and metablome.

The software quickly generates great visualizations to stratify samples, reveal functional differences, pinpoint biological drivers, and calculate the significance of the polyfunctionality of the cells.

IsoPlexis has been involved in the creation of many durable potent cell therapy products, using a wide variety of cell types. This single cell analysis fits into the manufacturing process at any and all stages, and is critical to gaining an understanding of the true function of the cells that can be masked at the population level.

IsoPlexis single-cell proteomics and quality analytics are applicable at every stage of development from preclinical mouse research, process development, all the way to patient characterization and stratification. To demonstrate the importance of this metric, Willard illustrated data from several recent publications.

For example, collaboration with Kite Pharma on their CD19 CAR-T product showed a correlation between polyfunctionality and treatment response. In other studies, the predictive polyfunctionality enhanced cell therapy development, and was correlated with preclinical outcome in gene-edited therapies, novel CAR-T comparisons, and combination T-cell therapies and agonists.

This collaboration between Lonza and IsoPlexis highlights the evolution of cell therapy manufacturing. As we continue to scale the manufacturing of cell therapies, it will be critical to characterize the quality and performance of these products with technologies such as IsoPlexis IsoLight, said Hewitt.

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G1 Therapeutics Announces Acceptance and Priority Review of NDA for Trilaciclib for Patients with Small Cell Lung Cancer – GlobeNewswire

August 22nd, 2020 3:56 pm

- PDUFA action date of February 15, 2021 assigned by U.S. Food and Drug Administration- Priority Review for trilaciclib is based on positive data from three randomized clinical trials showing robust myelopreservation benefits- G1 launching expanded access program (EAP) for patients with small cell lung cancer in the U.S.

RESEARCH TRIANGLE PARK, N.C., Aug. 17, 2020 (GLOBE NEWSWIRE) -- G1 Therapeutics, Inc. (Nasdaq: GTHX), a clinical-stage oncology company, today announced that the U.S. Food and Drug Administration (FDA) has accepted the New Drug Application (NDA) for trilaciclib for small cell lung cancer (SCLC) patients being treated with chemotherapy and granted Priority Review with a Prescription Drug User Fee Act (PDUFA) action date of February 15, 2021. Trilaciclib is a first-in-class investigational therapy designed to preserve bone marrow and immune system function during chemotherapy and improve patient outcomes.

There are currently no available therapies to protect patients from chemotherapy-induced toxicities before they occur, said Raj Malik, M.D., Chief Medical Officer and Senior Vice President, R&D. If approved, trilaciclib would be the first proactively administered myelopreservation therapy that is intended to make chemotherapy safer and reduce the need for rescue interventions, such as growth factor administrations and blood transfusions.

The FDA grants Priority Review to applications for potential therapies that, if approved, would be significant improvements in the safety or effectiveness of the treatment, diagnosis, or prevention of serious conditions when compared to standard applications.The trilaciclib NDA was supported by compelling myelopreservation data from three randomized, double-blind, placebo-controlled clinical trials in which trilaciclib was administered prior to chemotherapy treatment in patients with SCLC. Trilaciclibhas been granted Breakthrough Therapy Designation by the FDA.In the NDA acceptance letter, the FDA also stated that it is currently not planning to hold an advisory committee meeting to discuss this application.

While undergoing chemotherapy, many patients experience significant myelosuppression, become fatigued and susceptible to infection, and often require transfusions and growth factor administrations, said Jared Weiss, M.D., Lineberger Comprehensive Cancer Center,University of North Carolina Chapel Hill, NC. Preventing bone marrow damage proactively is an opportunity to improve the quality of life of patients receiving chemotherapy for small cell lung cancer and reduce costly rescue interventions.

Myelosuppression is the result of damage to bone marrow stem cells and is one of the most common side effects of chemotherapy. Myelosuppression can lead to serious conditions such as anemia, neutropenia or thrombocytopenia, which have broad ranging clinical, patient experience and economic impacts on ongoing cancer treatment and overall outcomes. In clinical trials, trilaciclib significantly reduced chemotherapy-induced myelosuppression, and patients receiving trilaciclib experienced fewer dose delays/reductions, infections, hospitalizations, and need for rescue therapies compared to patients receiving chemotherapy alone.

Expanded Access ProgramG1 is making trilaciclib available to SCLC patients in the U.S., who are unable to enter clinical trials and for whom there are no appropriate alternative treatments while the trilaciclib NDA is under regulatory review, pursuant to FDAs expanded access program (EAP). To facilitate needed access through the EAP, G1 is collaborating with Bionical Emas, a global specialist clinical research organization (CRO). For more information about the EAP access to trilaciclib, email patient.access.us@Bionical-emas.com.

Complications from myelosuppression have been a long-standing challenge when treating patients with SCLC, said Dr. Malik. Establishing an expanded access program provides qualified patients in serious need with access to trilaciclib while the NDA is under review.

Trilaciclib in Small Cell Lung CancerTrilaciclib is a first-in-class investigational therapy designed to improve outcomes for people with cancer treated with chemotherapy. In 2019, trilaciclib received FDA Breakthrough Therapy Designation, and, in June 2020, G1 submitted the NDA based on myelopreservation data from three randomized, double-blind, placebo-controlled clinical trials in which trilaciclib was administered prior to chemotherapy in patients with small cell lung cancer (SCLC). In August 2020, G1 received FDA Priority Review with the Prescription Drug User Fee Act (PDUFA) date of February 15, 2021.

In June 2020, G1 announced a co-promotion agreement with Boehringer Ingelheim for trilaciclib in small cell lung cancer in the U.S. and Puerto Rico. If approved, G1 will lead marketing, market access and medical engagement initiatives for trilaciclib. The Boehringer Ingelheim oncology commercial team, well-established in lung cancer, will lead sales force engagement initiatives.G1 will book revenue and retain development and commercialization rights to trilaciclib and pay Boehringer Ingelheim a promotional fee based on net sales. The three-year agreement does not extend to additional indications that G1 is evaluating for trilaciclib. Press release details of the G1/ Boehringer Ingelheim agreement can be found here.

Evaluating Trilaciclib in Other CancersIn a randomized trial of women with metastatic triple-negative breast cancer, preliminary data showed that trilaciclib improved overall survival when administered in combination with chemotherapy compared with chemotherapy alone. The company plans to present final overall survival data from this trial in the fourth quarter of 2020. Trilaciclib is being evaluated in neoadjuvant breast cancer as part of the I-SPY 2 TRIAL, and the company expects to initiate a Phase 3 trial in patients treated with chemotherapy for colorectal cancer in the fourth quarter of 2020.

About G1 TherapeuticsG1 Therapeutics, Inc. is a clinical-stage biopharmaceutical company focused on the discovery, development and delivery of next generation therapies that improve the lives of those affected by cancer. The company is developing and advancing two novel therapies: trilaciclib is a first-in-class therapy designed to improve outcomes for patients being treated with chemotherapy; rintodestrant is a potential best-in-class oral selective estrogen receptor degrader (SERD) for the treatment of ER+ breast cancer. In 2020, the company out-licensed global development and commercialization rights to its differentiated oral CDK4/6 inhibitor, lerociclib.

G1 Therapeutics is based in Research Triangle Park, N.C. For additional information, please visit http://www.g1therapeutics.com and follow us on Twitter @G1Therapeutics.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as "may," "will," "expect," "plan," "anticipate," "estimate," "intend" and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) are intended to identify forward-looking statements. Forward-looking statements in this press release include, but are not limited to, those relating to the therapeutic potential of trilaciclib, rintodestrant and lerociclib, the timing of marketing applications in the U.S. and Europe for trilaciclib in SCLC, trilaciclibs possibility to improve patient outcomes across multiple indications, rintodestrants potential to be best-in-class oral SERD, lerociclibs differentiated safety and tolerability profile over other marketed CDK4/6 inhibitors, our reliance on partners to develop and commercial licensed products, and the impact of pandemics such as COVID-19 (coronavirus), are based on the companys expectations and assumptions as of the date of this press release. Each of these forward-looking statements involves risks and uncertainties. Factors that may cause the companys actual results to differ from those expressed or implied in the forward-looking statements in this press release are discussed in the companys filings with the U.S. Securities and Exchange Commission, including the "Risk Factors" sections contained therein and include, but are not limited to, the companys ability to complete clinical trials for, obtain approvals for and commercialize any of its product candidates; the companys initial success in ongoing clinical trials may not be indicative of results obtained when these trials are completed or in later stage trials; the inherent uncertainties associated with developing new products or technologies and operating as a development-stage company; and market conditions. Except as required by law, the company assumes no obligation to update any forward-looking statements contained herein to reflect any change in expectations, even as new information becomes available.

Contacts:Investors:Jeff MacdonaldG1 Therapeutics, Inc.Senior Director, Investor Relations & Corporate Communications919-907-1944jmacdonald@g1therapeutics.comMedia:Christine RogersG1 Therapeutics, Inc.Associate Director, Corporate Communications984-365-2819crogers@g1therapeutics.com

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Iowa research team wins grant to study growth, genetics and nutrition in pigs – The Pig Site

August 22nd, 2020 3:55 pm

A research group led by Jack Dekkers, Distinguished Professor in the Department of Animal Science at Iowa State University, has received a grant from the National Institute of Food and Agriculture to further genetic improvement of livestock by integrating biological models of growth that have been developed by animal nutritionists.

The $500,000, two-year grant for Dekkers and his team will support the project, Integration of Biological Models in Genomic Evaluation: Pig-Growth-Model Whole Genome Prediction (PGM-WGP),as part of a national USDA initiative for Research in Tools and Resources for Animal Breeding, Genetics and Genomics Research.

Genomic evaluation and selection are used to improve the rate of genetic gain by identifying the animals with the best genetics for traits of economic importance. Using these animals for breeding future generations results in a more profitable final product, increased value of by-products and more. However, existing genomic evaluation models often fail to predict how the progeny of an animal will perform when they are exposed to diverse environmental conditions.

This research will take an existing genomic model and integrate it with models of growth that have been developed and used to formulate diets for pigs. This will allow breeders to better predict the genetics of an animal that underpin an animals ability to grow under different environmental conditions, including temperature, humidity, diets and disease.

"The idea to incorporate a biological growth model into genomic evaluation of pigs is based on similar work that has been conducted by scientists at Corteva, formerly Pioneer, who have successfully integrated crop-growth models into genomic evaluation to predict the performance of corn hybrids under normal versus drought conditions," said Dekkers.

Co-director Nick Sero, assistant professor of animal breeding, agreed, The integration of biological models with genomic models is expected to have a significant impact on genetic improvement for different environments in the swine industry.

To develop the model, the team will use in-depth data on feed intake, body weights and body composition on pigs from several lines from a commercial breeding company. The resulting model will be validated using this data to demonstrate its ability to improve prediction.

This project is being directed by Dekkers and will be co-directed by Sero and Andrea Doeschl-Wilson, reader and group leader of the Mathematical Modeling Group and Deputy Head of Genetics and Genomics Division of the Roslin Institute in Edinburgh.

Other team members include Iowa State faculty Rohan Fernando, professor of animal breeding, Jayasooriya Ranga Appuhamy, assistant professor of animal nutrition, along with a post-doctoral fellow and a PhD student who will be appointed to help conduct the research. Another collaborator is Jaap van Milgen, senior researcher and deputy-head of the INRAe-Agrocampus West Research Unit and developer of the INRA-Porc growth nutrition model. Several industry partners are also involved to supply insight, provide access to data and help facilitate model validation.

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Caldwell Zoo names baby giraffe after Tyler girl with rare genetic condition – CBS19.tv KYTX

August 22nd, 2020 3:55 pm

"I think the bottom line is, they're both fighters and they're both going to change the world for better."

TYLER, Texas A few weeks ago, the Caldwell Zoo in Tyler announced a contest on their Facebook page to find a name for their new baby giraffe. The winner of the contest would then able to meet the giraffe personally.

The zoo chose the name Xena June, and there's a special meaning behind it.

"Her room is giraffes and she has got I think every stuffed giraffe they have ever made," Caysi McDonald said.

McDonald's daughter, McKinley June loves giraffes. Her obsession for the animal all started at only 18-months-old.

"I took her to the Dallas Zoo and let her feed actually a baby giraffe up there. And that's all it took," McDonald said.

So when the zoo welcomed the baby giraffe, McDonald knew she had to show McKinley.

"Early on, we did a check up on our veterinary team came in, and she wasn't getting the antibodies that she should at that early age," Executive Director for the zoo, Hayes Caldwell, said.

The baby giraffe went through a rough period after being born. She ended up needing a blood plasma transfusion. While that worked for a day, the giraffe started to go downhill again, eventually needing a feeding tube.

"She wound up doing quite well and she's thriving now doing a great job," Caldwell said.

All the struggles endured by the baby giraffe is something McKinley understands. At 8-years-old, McKinley is non-verbal and non-mobile. She was born with a rare genetic condition so rare it doesn't have a name yet.

"She's the oldest kiddo with it. So she's just kind of leading the way and teaching and all the research and good things like that," McDonald said.

When McDonald saw the zoo's post asking for submissions to name the baby giraffe, she submitted a post to the zoo, showing McKinley's love for the animal.

"One of the names that they really liked was Xena, which is a princess warrior which this little draft calf certainly was," Caldwell said. "But then they also saw a post. McKinley's mom, who suggested the name either McKinley or June and posted some photos of her coming to the zoo, during the zoo, and her wheelchair was draped in giraffe."

McKinley eventually got a chance to meet the giraffe, a moment McDonald says she won't soon forget.

"She got really excited and was squealing and kind of babbling and was just that was the highlight of her summer for sure," McDonald said. "I think the bottom line is, they're both fighters and they're both going to change the world for better."

If you would like to see the baby giraffe, the Caldwell Zoo is open everyday from 9 a.m to 3 p.m.

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Preimplantation Genetic Screening Market 2020 | Scope of Current and Future Industry 2026 – Scientect

August 22nd, 2020 3:55 pm

Global Marketers presents an updated and Latest Study on Preimplantation Genetic Screening Market 2020-2026. This report comprises a detailed study of the market covering its future predictions by the past year as a reference for the period between 2020 and 2026 as the forecast period. The report breakdowns major segments and highlights wider level geographies. The report bridges a perfect balance of both qualitative and quantitative information of the Preimplantation Genetic Screening Market. This report also offers an all-inclusive study of the future trends and developments of the market.

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Companies Profiled in this report includes:

Illumina, IncThermo Fisher Scientific Inc.Agilent Technologies, Inc.PerkinElmer, Inc.CooperSurgical, Inc.Beijing Genomics Institute

Preimplantation Genetic Screening Market forecast and review in five major regions: North America, Europe, Asia-Pacific (APAC), Middle East, and Africa (MEA), and South & Central America.

The key insights and evaluations presented in this Preimplantation Genetic Screening report are worth knowing for any market participant, helping them in ascertaining the superior dynamics and the future trajectories of the global Preimplantation Genetic Screening Market. The report explains the locale, economic situations with the item value, benefit, demand & supply with market development rate and figure.

By Product Type, Preimplantation Genetic Screening Market has been segmented into:

Next Generation Sequencing (NGS)Polymerase Chain Reaction (PCR)Fluorescent In-situ Hybridization (FISH)Comparative Genomic Hybridization (CGH)Single Nucleotide Polymorphism (SNP)

By Application, Preimplantation Genetic Screening Market has been segmented into:

Single Gene DisordersX-linked DisordersHLA TypingGender Identification

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We, at Global Marketers, understand the economic impact on various sectors and markets. Using our holistic market research methodology, we are focused on aiding your business sustain and grow during COVID-19 pandemics. With deep expertise across various industries-no matter how large or small and with a team of highly experienced and dedicated analysts, we offer you an impact analysis of coronavirus outbreak across industries to help you prepare for the future.

Key Questions Answered In The Report:

Major factors covered in the report:

Fundamentals of Table of Content:

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Dr. Krystof Bankiewicz–World-Renowned Neurosurgeon and Genetic Medicine Expert–Named President and Chief Executive Officer, Columbus Children’s…

August 22nd, 2020 3:55 pm

CHAPEL HILL, N.C., Aug. 20, 2020 /PRNewswire/ -- Columbus Children's Foundation (CCF), a national leading non-profit biotech organization helping children with ultra-rare genetic diseases, announced today that Krystof Bankiewicz, M.D., Ph.D., has been named president and chief executive officer. Bankiewicz will work closely with Executive Director Laura Hameed and CCF's esteemed board of trustee members, the CCF Cures Cabinet, and scientific advisors.

Bankiewicz, founder of multiple biotech companies and tenured professor in the Department of Neurosurgery at The Ohio State University College of Medicine, has been instrumental in the organization's success by developing and delivering multiple life-changing treatments as a CCF founding trustee.

According to CCF Chairman and Chief Science Officer R. Jude Samulski, "Dr. Bankiewicz has been quietly focused on bringing life-saving medicines to children that have shown tremendous therapeutic outcomes. He is a remarkable talent with a sincere focus on using his expertise to change the lives of children with significant unmet medical needs. We're thrilled to see someone with his mindset, expertise, and experience join us in this leadership role. Our organizational mission is aimed at ensuring no children are left behind when science can put cures in reach and Krystof will be a key player in effectuating that mission."

In this new role, Bankiewicz will orchestrate CCF's unique non-profit model for conducting translational research and developing pre-clinical and clinical novel therapeutic programs to advance treatments for children with ultra-rare, and often debilitating, genetic disorders.

"The significant impact Dr. Bankiewicz has had on the field of neuro-restorative medicine and gene therapy raises the Foundation's standing and its ability to accelerate curative solutions will help children around the globe," said Hameed. "Additionally, this innovative approach has the potential to change the market through developing cures while also ensuring equitable and affordable access for treatments. Access to cures without affordability creates tragic equity and access issues and I am thrilled that he has chosen to advance treatments using this innovative model. This approach brings out the best in science and humanity."

"In a world where economics do not add up for large biotech or pharmaceutical organizations to develop genetic medicine for smaller populations of children with ultra-rare conditions, by accelerating these programs in this manner, we can bring the focus needed to give these kids and their families a chance at life," said Bankiewicz. "Achieving the astounding results we are seeing in children who have already been treated and joining the Foundation to expand this impact is one of the most rewarding opportunities of my career. I look forward to doing my part to make a difference in children's lives and advance the ability to impact advancement in gene therapy more broadly."

Recognized in the medical community for groundbreaking accomplishments treating Parkinson's Disease and other conditions affecting the central nervous system, Dr. Bankiewicz pioneered delivery of gene therapeutics directly to the brain to treat neurological disorders. Among his many achievements as an industry and academic leader, he co-founded three companies, invented numerous medical patents and is author to more than 230 peer-reviewed research articles. Bankiewicz is a tenured professor of neurosurgery and Gilbert and Kathryn Mitchell Endowed Chair at The Ohio State University College of Medicine. Prior to that, he served as Kinetics Foundation chair in translational research and tenured professor in residence of neurological surgery and neurology at the University of California San Francisco.

Bankiewicz earned an M.D. from Jagiellonian University in Krakow, Poland, and a Ph.D., D.Sc., from the Institute of Neurology and Psychiatry in Warsaw. He also trained at National Institutes of Health in Bethesda, MD.

About Columbus Children's FoundationFounded in 2017, the Columbus Children's Foundation is a 501(c)3 non-profit in Chapel Hill, N.C. As one of the leading nonprofit biotech organizations, its mission is to help children diagnosed with ultra-rare genetic diseases. The Foundation has a global footprint with a sister Foundation located in Spain. Columbus Children's Foundation is focused on ultra-rare diseases that have lagged behind due to their small populations. Because the pharmaceutical industry tends to focus on more common illnesses with greater commercial potential, ultra-rare diseases are often overlooked, prompting the need for funding from outside the industry and a new model for advancement. The Columbus Children's Foundation also helps ensure that children with such disorders can participate in clinical trials or receive therapy if their families can't afford travel and related costs. For more information, visit the Columbus Children's Foundation or call (612) 437-8836.

Media Contact:Mark Rosenberg[emailprotected](919) 412-7378

SOURCE Columbus Children's Foundation

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Biomedical research often ignores the diverse genetic ancestry of Black Americans – UPI News

August 22nd, 2020 3:55 pm

Aug. 20 (UPI) -- The genetic ancestry of Black Americans is exceptionally diverse, according to a new survey of residents in four U.S. cities.

The results, published this week in the journal PLOS One, call into question the use of skin color as a proxy for race in social science and biomedical research.

Historically, social scientists and biomedical researchers have treated Black people in the United States, including African American, African and Caribbean people, as a homogeneous group. According to the authors of the latest study, the practice is certain to erase important scientific nuances.

"This practice is not new and is reflective of age-old ideas and theories about human races," senior study author Rick Kittles, director of the Division of Health Equities at City of Hope Medical Center, a comprehensive cancer center near Los Angeles, told UPI in an email, adding that racial thinking presupposes that Black Americans are a homogeneous group.

"While current science does not support this, the racial thinking is still evident in study designs and conclusions drawn," he said.

In an effort to demonstrate the unique ancestral diversity that racial reductionism ignores, a team of physicians and scientists, led by Dede Teteh, postdoctoral researcher at City of Hope, analyzed the skin color, genetic ancestry and social attainment of 259 Black residents of Norman, Oklahoma; Cincinnati, Ohio; Harlem, New York; and Washington, DC.

"We focused on those factors because they all mediate how African Americans are seen and treated in the U.S.," Kittles said. "Skin color and genetic ancestry are how many people historically in the U.S. define race."

Their efforts revealed significant differences in ancestry, skin pigmentation and social attainment between the residents of the four cities.

Among the correlations revealed by the analysis, researchers found men with darker skin pigmentation were more likely to be married, while women were more likely to be wed if they had lighter skin color. Researchers also found residents with darker skin color and stronger West African ancestral roots were more likely to have earned graduate degrees and secured professional jobs than those with lighter pigmentation.

"There are still communities in the U.S. where skin color and genetic ancestry are strongly correlated with socio-economic variables and social attainment," Kittles said.

Researchers hope their work will motivate social scientists and biomedical researchers to account for the ancestral diversity of Black Americans as they design and execute studies.

"This research will help justify the need to take into account local history and experiences when one is studying African Americans," Kittles said. "African Americans are a macro-ethnic group with diverse genetic ancestries and local histories geographically here in the U.S."

In followup studies, researchers hope to expand their survey efforts to include larger populations of African Americans across the U.S.

"We'll also take into account variables such as racial identity and how that influences how African Americans see themselves and how they are seen by others in the health care system," Kittles said.

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Two Families, Two Fates: When the Misdiagnosis is Child Abuse – The Marshall Project

August 22nd, 2020 3:54 pm

My baby is not breathing, Josue Santiago told the Racine, Wisconsin, 911 operator. Oh my God, man, please send somebody. Please. Elihu. Elihu, he said, repeating his sons name.

Until moments before the call, April 11, 2017, had been unremarkable in Santiagos household. He got home from his night shift at a foundry and took over child care from his girlfriend, the babys mom, Glendalyz Galarza, as she went to work. He spent the day feeding and playing with Elihu, walking the dogs, drinking coffee, and texting with Galarza. Take the meat out of the freezer, she reminded him. Santiago worried about Elihu, though, texting Galarza that the baby was sleeping a lot and wasnt hungry. In the afternoon, he took a photo of Elihu, and remembers thinking the four-month-old didnt look like himself, looked too serious.

Then, just before 5 p.m., Santiago flopped down on his and Galarzas bed to sleep and pulled Elihus bassinet close. I lay down, he told me when we spoke last year. Something told me, Get up. His voice slowed and lowered. And when I get up and look at him, hes pale. His lips were purple. As he talked, Santiago clasped and unclasped his hands, his eyes wet. He was shaking.

Santiago picked him up, ran downstairs, and splashed water on the babys face: no response. He called 911, and an ambulance sped Elihu to a hospital.

Several months later and one state over, in a quiet Illinois suburb, Molly Hayes, a dentist, and Daniel Namie, an engineering salesman, brought their three-month-old son, Alex, home after four weeks in the hospital.

Theyd thought they were being overly cautious when they first brought him to the ER, after he started wheezing and seemed to swallow milk wrong. Doctors didnt know what the problem was, but it was getting worse.

Hayes and Namie were praying in a waiting room when doctors stepped out of Alexs hospital room. The babys heart had stopped, they said. Hayes collapsed to the ground. Namie made himself enter the room, a priest accompanying him. I thought that was it, Namie told me. I kissed him on the forehead, and I was so happy to feel that he was still warm when I kissed him. The priest quietly baptized the baby with a syringe of water. Namie stumbled out and joined his wife on the ground in the waiting room, praying.

A few minutes later, the doctors came out. Hayes thought they were going to say the time of death. They didnt. Alexs heart was beating, slowly.

Doctors transferred Alex to Lurie Childrens Hospital in Chicago, where he underwent a battery of treatments. About a month later, on October 20, Alex was stable enough to go home, although with a feeding tube, an oxygen machine, and instructions for how to monitor his oxygen levels. Hayes had recently gone back to work at the dental practice, while Namie had quit his job to care for Alex. But on October 26, Alexs oxygen levels plummeted, and he was rushed to a local hospital.

Within hours of bringing their children to the hospitals, each familys life would change. Both sets of parents would eventually lose custody of their child. One parent would be jailed. One baby would live. One baby would die. And both childrens cases would turn on the diagnosis of a child-abuse pediatrician, an increasingly powerful medical specialty. These doctors are trained in diagnosing child abuse, in writing reports meant to hold up in court, and in providing testimony on behalf of state prosecutors. Many of their salaries are paid, in part, by the child-welfare departments charged with separating parents and children. The doctors opinions can be subjective and powerful, even overruling other specialists. But none of the parents knew that child-abuse pediatricians existednot even as they talked with them, unwittingly sharing information that became a part of a case against them.

Every word we used showed up in court, Hayes told me.

Child abuse is a pervasive and complex problem: Few children or abusers report harm themselves, so its up to other authorities, such as medical personnel and teachers, or bystanders, such as neighbors, to report suspected abuse. Some 3.5 million children in America were reported as being suspected victims of child abuse in 2018, the most recent year for which data are available; about 680,000 were ultimately determined by authorities to have been abused or neglected.

When suspected abuse has a medical component, like an injury or a bruise, child-abuse pediatricians step in to examine injuries, rule out causes other than abuse, such as a disease, and consider the familys explanations. They are trained in what types of fractures generally stem from abuse, and what bleeding patterns in the brain can be caused by shaking. With an abuse expert on staff, the thinking goes, regular pediatricians dont need to worry about overreacting to an innocent bruise, or missing warning signs because parents are convincing liars. Child-welfare workers also rely on this expertise as they consider removing children from their homes. The American Board of Pediatrics certified the first group of child-abuse pediatricians in 2009; there are now 344 such specialists nationally, stationed in all but three states.

A review of dozens of cases, including thousands of pages of medical records, child-welfare agencies records, and testimony, along with court decisions, contracts, and emails from child-abuse pediatricians, shows that these doctors can have near-unilateral power in labeling abuseeven though their conclusions are sometimes at odds with the opinions of specialists like orthopedists and hematologists. Their judgments are echoed, amplified, and often unblinkingly accepted by investigators. Indeed, instances in which medical professionals make reports to child-welfare agencies are 40 percent more likely to be substantiatedmeaning the agencies found that abuse occurredthan reports by nonmedical professionals, according to a Marshall Project analysis of the National Data Archive on Child Abuse and Neglect.

But child-abuse pediatricians may have a conflicted perspective. Many are paid in part by child-welfare departments and work directly with state lawyers in cases where the state is removing children from homes, and end up shaping arguments against parents, testifying in court, and working within a system that parents dont understand is stacked against them. This is particularly problematic because child-removal cases play out in family court, where the states burden of proof is low and parents have limited legal rights.

The first time I started to hear what parents are going through, I was shocked, Maxine Eichner, a family-law professor at the University of North Carolina School of Law, told me. There should be a role for child-abuse pediatricians, she said, but many are going well beyond their medical expertise and wielding the power of the diagnosis in ways that are really harmful for children and families.

After Alexs oxygen levels plummeted and he was rushed to the hospital, Hayes and Namie were anxious for updates. His earlier condition had been diagnosed as acute respiratory distress syndrome; Lurie staff said that a number of things could have caused it, such as aspiration pneumonia, meaning that milk had built up in his lungs rather than going to his stomach. Hayes and Namie were prepared for another round of trading off shifts at the hospital with Alex and at home with their 19-month-old, Mara. Then an X-ray showed that Alex had clavicle and rib fractures. An earlier X-ray from Lurie, however, had shown no fractures. I was seriously so unconcerned with this. I was like, What is going on with his lungs? Hayes said. Im so naive. Im a mandated reporter. I should have known.

Mandated reporter: As a dentist, Hayes, like any medical professional, is required to call a child-welfare hotline if she has any suspicion of child abuse.

The doctor transferred Alex back to Lurie, where a social worker told Namie that a child-welfare case had been opened. When Namie told Hayes, I was like, Good. I want to talk to somebody about this, she said, still focused on Alexs lungs and thinking maybe an incident of rough handling during the earlier hospital stay had caused the fractures.

According to Hayes and Namie, nurses, a hospital social worker, and a child-welfare caseworker told them that a pediatrician named Dr. Narang would get to the bottom of what was wrong with Alex. Soon after that, Narang spoke with Namie. Namie assumed that Narang was treating his son, and answered Narangs questions about Alexs history and their family.

That evening, the caseworker told Hayes and Namie that they couldnt be at home unsupervised with Mara, because there were concerns about her safety. They hastily arranged for Mara to spend the night with a friend of theirs.

The next morning, Narang talked with Hayes alone. We were so honestI said something about Alex being unplanned, and I didnt mean it like that, Hayes told me. Soon after, Narang told Hayes and Namie that the hospital had found more fractures.

Sandeep Narang, a child-abuse pediatrician who started out as a lawyer, has given lectures nationwide on being an expert witness. (A Lurie spokesperson, as well as lawyers for Narang and the hospital, declined to comment for this article.) He received Alexs case when the local doctor said it was beyond his expertise to speculate on any cause of the fractures, according to case notes, and Lurie ER doctors were concerned about abuse.

Other investigators would repeatedly defer to Narangs knowledge, records show, interpreting his opinions, even when he hedged them, as hard facts. Before Narang had drawn a firm conclusion about the cause of Alexs fractures, the child-welfare agencys notes show a caseworker reporting that the doctor thought the injuries were indicative of abuse. When Narang requested that the agency hold off on assuming protective custody of the children until more test results came in, the agency agreedbut then asked the parents to place Mara with the family friend, because the agency thought parental care was unsafe, per case notes.

Narang thought that the fractures looked fairly newmeaning they likely had occurred when Alex was at home. By October 30, hed told child-welfare workers that the team is still leaning towards non-accidental trauma, a term for abuse, but he needed other tests. The caseworkers didnt wait, asking that the parents agree not to see Alex and Mara without supervision, because the fractures appear[ed] suscipious [sic] for abuse.

Scrambling, the couple asked Namies parents to take the children. The child-welfare agency, without entering the couples house, had determined it injurious, so they rented an apartment for the children and their grandparents to stay in.

Youre guilty before proven innocent in this stuff, and its awful, Namie told me. Indeed, even before the child-welfare investigator got to the hospital, the agency opened a case against the parents with this note: **ACTION NEEDED** Allegation 9; Child at hospital with perpetrators present.

In March 2018, Narang, with all the requested tests back, gave his final opinion: Most probably the result of trauma, with non-accidental trauma being the most probable subset.

Worried about missing potential abuse, child-abuse pediatricians screen for a wide variety of physical issues, along with, of course, emotional and sexual abuse. At two Chicago hospitals, a contract requires child-abuse teams to screen any child under 3 who presents with a wide range of issues, from burns to bruises. In Florida, children 5 and younger who have bruises anywhere must be assessed. A presentation on the University of Utah School of Medicines website advises that children may be at risk for abuse if their parents have young age, low education, single parenthood, large number of dependent children, low income.

A familys background is an important factor in whether a child is screened for abuse. To be certified, child-abuse pediatricians must understand the influence of caregiver characteristics, such as young parental age and military service, on abuse risk, along with family poverty and family race and ethnicity, according to an American Board of Pediatrics examination guide for the specialty obtained by The Marshall Project.

Doctors overdiagnose abuse in children they perceive as being lower-income or nonwhite. In a 2017 study, researchers gave child-abuse pediatricians cases of potential abuse with certain socioeconomic cues about the victims families, such as unemployed caregivers. When researchers reversed those cuesfor example, by telling the doctors the caregivers were professionalsthey found that diagnostic decisions changed in 40 percent of cases. A 2002 study showed that hospitals are more likely to report Black, Hispanic, and Native children for potentially abusive fractures, while other studies show that lower social class leads to more screening for abuse.

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Cases referred to child-welfare agencies by medical professionals are much more likely to be substantiated than those referred by almost all other reporters, including teachers and social workers. Though the National Data Archive on Child Abuse and Neglect does not track referrals from child-abuse pediatricians specifically, an analysis by The Marshall Project found that from 2009, when the first specialists were certified, to 2018, the most recent year for which data are available, the number of reports by medical professionals grew by 55 percent, twice as fast as the growth of all reports during that time. In 2018, child-welfare agencies substantiated one in four reports by medical professionals, versus one in six reports by all other sources.

Once a child-abuse pediatrician diagnoses abuse, that assessment can take on a life of its own in family court.

In 1970, when Eli Newberger was a first-year pediatric resident at Childrens Hospital in Boston, child abuse had become a growing concern after an academic paper on the topic made waves, and every state passed a mandatory-reporter law. A hospital social worker asked Newberger to assess a 4-year-old boy who had been discharged from the hospital the week before with a fractured femur and referred to the Massachusetts child-welfare agency for possible abuse. The agency had relayed that the child might be at risk of being reinjured.

I said, Sure, it sounds serious. We could do this today if you like, Newberger told me. The social worker checked with the agency, which said the assessment could wait until the following week. Not knowing any better, Newberger said, he agreed to hold off. On Monday, the social worker paged him and, crying, told him that the child had died of widely disseminated scald burns over the weekend.

Later, Newberger would learn that those burn patterns likely meant a plunge into scalding bathwater. If only I had insisted: Call the police. Bring this child in. But, of course, I didnt know what I didnt know, Newberger said.

That day, he retrieved hospital records for all the children whom the hospital had reported to the child-welfare agency in the past year. To my horror, he said, four of the 39 had returned with new injuries. Newberger alerted the hospitals chief physician, who asked Newberger to find out how other hospitals handled suspected abuse cases.

Newberger learned that the few hospitals handling suspected abuse formally brought in pediatricians, social workers, or child-welfare representatives to review cases and make safe discharge plans. Newberger formed a team at Childrens to do so. In 1973, he published a study in the influential journal Pediatrics describing how the group had reduced the reinjury rate from 10 percent to just over 1 percent, while cutting hospital costs. Newberger was suddenly a pioneer in the child-abuse field, advising doctors and officials around the country.

By the 1990s, a group of pediatricians focused on child abuse was considering whether child abuse should be a medical subspecialty, requiring additional training and an exam.

That was a bad idea, Newberger thought. Hed become uncomfortable with child-abuse investigations, whose focus transformed into a very much criminalized approachless, primarily, on understanding and help than on the developing of an evidentiary base for prosecution and pursuing perpetrators, he said. Newberger thought making child abuse a subspecialty would move the focus further in that direction, and wouldnt necessarily help children or their families. He was outvoted.

Newberger, who is 79, closed his office at Childrens in 1999 but remained on staff until 2019. He now serves as an expert witness, analyzing cases for defense teams, consulting in cases where families were badly treated and mistakes in diagnoses were made, he said, and also for prosecutors and plaintiffs, when he believes abuse did occur. He said he gets a call from a parents lawyer requesting help about once a week.

The idea that the state should take custody of children is centuries old: The Elizabethan Poor Law of 1601 allowed English authorities to take poor children from their parents if they felt parents were unable to keepe and maintaine theire Children. This doctrine, called parens patriaeparent of the countrywas established in the American legal system via an 1839 Pennsylvania Supreme Court decision. May not the natural parents, when unequal to the task of education, or unworthy of it, be superseded by the parens patriae? the court wrote.

Courts elsewhere delivered their own parens patriae decisions, while reformers created institutions for children whose parents were deemed inadequate. The institutions handled mainly poor and immigrant children removed from their homes, and inculcated Protestant, middle-class values. Those efforts became the basis of the modern child-welfare system, and of family courts.

The first juvenile court in the United States was established in 1899. The court setup was communal, based on the parens patriae idea. Through the 1970s, the approach was to bring the family, the social worker into chambers and say, Were not here to accuse anybody of anything, says Richard Krugman, a pediatrician who treated abuse cases during that time. Many parents agreed to attend voluntary classes or accepted support from child-welfare services, and the child usually stayed with the family.

Under the Reagan administration, however, an attorney general directed prosecutors to charge and try abuse cases. And in 1997, under the Clinton administration, the Adoption and Safe Families Act shifted child-welfare agencies priorities from letting children stay in foster careand ultimately reunifying familiesto terminating parental rights and encouraging adoptions.

Today, parents in child-welfare cases dont have the protections that defendants in criminal cases have, because their cases are heard in family courts, where the burden of proof is low: States must show clear and convincing evidence of abuseor, in some jurisdictions, a preponderance of evidence, meaning, basically, that abuse or neglect is more likely than not. Some states have no requirement that low-income parents be provided with a free lawyer if they cant afford one. It can therefore be hard to put on a vigorous defense case, says Judge John J. Romero Jr., the childrens-court division judge in Albuquerque, New Mexico, and a former president of the National Council of Juvenile and Family Court Judges. In a recent abuse case, Romero says, one defense expert charged $300 an hour, and court administration would cover only $90.

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Even if a parent can mount an aggressive defense, doing so might antagonize the child-welfare worker deciding whether to reunite her with her child. If you put up a fight, its going to look worse, says Aaron Goldstein, the head of the civil division of the Cook County, Illinois, public-defenders office. Child-abuse pediatricians are not required to identify themselves as such, or to notify parents or caregivers that theyre being interviewed as part of a potential child-abuse case. Parents flustered conversations might become for-the-record statements without their realizing it. Child-abuse pediatricians consider it suggestive of abuse when parents cant explain an injury, or when their explanation changes. Unaware that theyre being formally questioned, parents may offer ideas about the cause of the injury, and the pediatrician may see this as a shifting account.

Once a case is referred to a child-welfare agency, the caseworker tends to accept the pediatricians assessment without question. In a 2019 case in Brooklyn, a mother told an ER doctor that her daughter spilled hot noodle soup on her stomach today, causing a burn. An off-site child-abuse pediatrician reviewed photos and decided the childs burns were most consistent with a burn from a heated implement like an iron.

The police were called. The mother told them that she didnt own an iron. The girl told them her mother made her noodles and the noodles fell down and got on her flowered shirt. Police photographs from the apartment show a Cup Noodles container and noodles in the garbage, and a stained flowered tunic. No iron was found. Police did not pursue the case. But the child-welfare caseworker, guided by the opinion of the child-abuse pediatrician, did. After the girls father left his job in another city to be with her, and her mother took months of parenting and anger-management classes, the agency agreed to dismiss the case. Everyone gets to back away quietly from the crisis situation of Are we going to have a screaming match about how absurd this call that this doctor made was? says Emma Alpert of Brooklyn Defender Services, who specializes in medically complex cases and worked on this case.

In a 2013 Brooklyn case, a child-abuse pediatrician conducted a cursory record review, in a judges words, to diagnose child abuse of a four-month-old who presented with fractures. The specialist didnt speak with the babys parents, her grandmother, her foster-care parent, her pediatrician, or doctors who had examined and treated her. At hearings, a child-welfare worker testified that the childs guardians were loving and have done all that has been asked of them, as the judge later wrote. But the agency removed the child from her guardians custody based on the child-abuse pediatricians assessment. The judge ordered the girl home after shed been separated from her family for a year. (The child-abuse pediatrician could not be reached for comment.)

A power imbalance between child-welfare caseworkers and child-abuse pediatricians makes it difficult for caseworkers to question the doctors. An entry-level caseworker job typically requires just a two- or four-year degree, and can pay less than $40,000 a year. Someone who second-guesses a doctors opinion, and a specialist working regularly with her department at that, could derail her career.This means that a second independent investigation of the case often doesnt take place, even though child-abuse pediatricians believe it does. Our partners, law enforcement and child-protective services, are the ones who actually make that final decision: Theyre the ones who do the investigation and talk with everyone in the family, go into the home, Suzanne B. Haney, the chair of the American Academy of Pediatrics Council on Child Abuse and Neglect, told me.

But in reality, it doesnt always happen that way. As a child-welfare worker testified in a 2015 Pennsylvania hearing, We have to go based upon the statement from the medical professional.

In November 2017, a family court held a custody hearing in Alex and Mara Namies case. A family-court judge decided that at least for the moment, the children werent safe with their parents.

Family court is where states can file to take temporary or permanent custody of children from parents if abuse is suspected; prosecutors can also pursue a separate criminal case. With a judges approval, a child-welfare caseworker makes arrangements for foster care, parental visitation, or parenting classes. But a state or child-welfare lawyer might take it further and argue for separation, culminating in a termination-of-parental-rights proceeding, where a judge makes the final decision.

The Illinois child-welfare agency decided to pursue separation; meanwhile, Hayes and Namie tried to make life as normal as possible for their kids. They burned through their savings, paying for lawyers and the new apartment. They saw the children daily, with Namies parents present. Hayes felt ripped with jealousy hearing other parents unthinking complaints. Friends were saying, I just want a break, and I welled up.

In court, Hayes watched as her statements were repeated on the standthat Alex had been unplanned, that she was back at work while Alex was cared for by his father and Mara by a nanny. Then there was a caseworkers testimony that when the department took custody of Alex and Mara, Hayess affect seemed a little flat. She didnt seem upset. She wasnt crying. (A spokesperson for Illinois child-welfare agency did not respond to requests for comment.)

Throughout a deposition and a court appearance, Narang maintained that hed ruled out explanations for Alexs fractures aside from abuse. But the parents lawyers focused on a specific report in the hospital records. A kidney specialist had examined Alex to see if he might have an underlying bone disease (irregular kidney function can signal problems with bones) and noted that Alexs earlier treatments at Lurie had put him at increased risks of fractures, and his bones appear thin throughout. Narang, who is not a kidney or bone specialist, had ordered follow-up tests, which ruled out most genetic bone diseases.When Steven Peskind, Hayess lawyer, asked Narang about the kidney specialists assessment that Alexs bones were thin, he replied, I wasnt convinced that that was true, adding that he didnt know why the specialist felt like those [earlier treatments] were correlated to the thinning bones.

At a later hearing, Narang adjusted a key fact. Doctors can backdate fractures based on X-rays showing when bone healing began. Narang had posited that Alexs fractures had occurred seven to 10 days before his second admission to Lurie. But when a lawyer asked Narang if it was more common for healing to start 10 to 14 days after a fracture, Narang said, Correct. Where was Alex in that time frame? the lawyer asked. He would have been back at Lurie, Narang replied.

By March, the parents lawyers had hired a pediatric orthopedist to review Alexs records. Alex did have thin bones from the earlier Lurie treatments, according to the orthopedist, so even mild handling, such as putting in an IV, could have caused the fractures. In April, that doctor testified that he believed Narang had been wrong. The same month, Hayes and Namie gave away Alexs now too-small baby clothing, much of it unworn.

Many people believe that science, including medical science, is a binary process, the family-court judge said as she gave her decision in May 2018. Its not that easy, she said. The case boiled down to the opinions of Narang and the orthopedist, the judge said, and she found the orthopedist more convincing, since he was a bone expert and Narang wasnt. The judge dismissed the states petitions. That day, the parents brought their children home, and bought champagne to celebrate. But Hayes didnt want it; she took her kids on a routine outing instead. It was the first time Id ever pushed my two kids in a Target cart, she said.

These days, Mara, red curls in a bun, climbs in and out of her parents arms. Alex moves around so much, he seems motor-powered. A third child, a girl named Ruthie, was born last August. The kids fluorescent scribbles cover the fridge. Hayes and Namie filed a lawsuit last year against Narang, Lurie, and a child-welfare worker; on Tuesday, a judge dismissed the case against Narang and Lurie, but kept the lawsuit against the caseworker active.

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There has to be reform, Namie said.

It was jalapeo coffee that brought Elihus parents together. In 2016, Josue Santiago went to a friends house one evening. Glendalyz Galarza, whom hed known when they were teenagers in Chicago, was there, and they talked all night. The next morning, Santiago tried to impress her with his signature cinnamon coffee, but he accidentally used ground jalapeo. Galarza choked it down anyway. They began dating.

Santiago had moved around a lot as a kid, living in Puerto Rico, Connecticut, Indiana, Wisconsin, and Chicago. When he eventually moved out on his own, to sleep on flour sacks at the bakery where he worked, his dad said, Oh, youre not gonna be nobody, Santiago recalled. In 2012, Santiago had a son, followed by two daughters. After splitting with their mother, he took the children on weekends. He got a solid job at the foundry and made extra money by tattooing friends and acquaintances.

When Galarza got pregnant, the couple was shocked but happy. In December 2016, they had Elihu. He looked just like his mother, they thought.

On April 11, 2017, after Santiago called 911 for Elihu, Galarza came home from her bank-teller job just as an ambulance arrived. At a local hospital, doctors assessed Elihu and thought his convulsions had occurred naturally, but he needed a higher level of care; they transferred him to Childrens Hospital in Milwaukee. There, the doctors said the baby showed retinal and brain hemorrhagingand they didnt seem to think it had occurred naturally. Their questions seemed to focus on Santiagos role, pretty much like they saw him and they automatically assumed he did something to the baby, Galarza told me. Santiago thought a lot about how he looked, as a Puerto Rican man with tattoos in a state whose population is almost entirely white; later, when a photo of him was posted online, people commented: Hes MS-13, and look at the teardrops in his eyes, he told me. I dont even have fucking teardrops in my eyes. These are stars.

Behind the scenes at Childrens, a nurse in the intensive-care unit requested an abuse consultation. Angela Rabbitt, a child-abuse pediatrician, questioned the parents and examined Elihu. She didnt tell them she was a child-abuse pediatrician, Galarza and Santiago said. The most common cause of this constellation of injuries can be seen when a child is violently slammed, shaken and/or thrown, Rabbitt wrote in a medical report, and in the absence of a severe bleeding disorder or plausible accidental mechanism these findings are diagnostic for abusive head trauma. She documented an unusual finding in Elihus blood labs, and suggested further testing to rule out congenital problems that could cause excessive bleeding.The night after he entered Childrens, on April 12, child-welfare workers took custody of Elihu. His parents couldnt be alone with him anymore. When the police arrived at the hospital, instead of interviewing Galarza and Santiago, they talked to Rabbitt. She specifically stated that this type of bleeding in the brain is not from any type of fall and would be consistent with a shaking motion, the police wrote.

The morning of April 13, doctors told Galarza and Santiago that Elihu had become unresponsive. That afternoon, police questioned the couple separately for six hours at a police station. Santiago told police repeatedly that he hadnt hurt the baby, asked if running down the stairs with him couldve done it, said he wanted to help. Left alone in the room, Santiago prayed aloud in Spanish. Padre, s que somos inocentes, Padre . Qu haces? (Father, I know that we are innocent, Father What are you doing?).By that time, Rabbitts analysis had become a hard fact. Its medical records telling us this, you know, an investigator told Santiago. I just talked to Dr. Rabbitt up at Childrens again, and theres only a couple ways this happens, right? the investigator said: car crashes, and in head-trauma cases, where sometimes parents lose their shit. The couple handed over their cellphones. Police photographed their house. They had Santiago reenact, with a doll, how hed found Elihu. My sons dying in the hospital, he said, his voice sounding charred. Elihu died on April 16.

On April 20, Rabbitt got back tests showing that Elihu had had a Factor VII blood deficiency, a bleeding issue not uncommon in head trauma, she wrote, adding that she would discuss additional tests with the hematology department. No further mentions of bleeding issues or tests occur in the hospital or child-welfare records. (Rabbitt declined to comment; a Childrens spokesperson said that medical evaluations are an important factor in the process, but the role of law enforcement and state agencies is to decide when and how to proceed on cases.)

Santiago told various peopleincluding investigatorsthat there was a history of bad blood, as he put it, in his family. But the investigators would shove it to the side, Galarza said.

The police and child-welfare officials seemed to accept Rabbitts assessment without question.On April 27, Santiago, whose record amounted to two driving-without-a-license violations, was arrested and charged with murdering his son. He would stay in jail for more than a year and a half.

Rabbitts opinion formed the legal basis for the arrest. Dr. RABBITT stated that this type of bleeding is the result of a traumatic brain injury, an investigator wrote. One of the public defenders representing Santiago questioned this: The conclusion, then, that you made that Mr. Santiago was somehow responsible for this injury was because of Dr. Rabbitts opinion, correct? Mindy Nolan asked a police investigator at a preliminary hearing.

The information that she gave us is what led us to the conclusion that we came to, the investigator answered.

A similar exchange occurred with child-welfare services. A caseworker met with a hospital social worker and Rabbitt, and wrote in her report: They believe that CPS needs to get involved and figure out what actually happened to Elihu. But instead of doing that, the child-welfare worker removed Elihu from Galarza and Santiagos custody per the report completed by Dr. Rabbitt. Though the worker filed follow-up reports and conducted interviews, nothing in the records suggests she did anything with that information. (A Wisconsin child-welfare spokesperson said state law prohibited the department from commenting on specific cases.)

The medical examiner, too, relied on Rabbitts assessment when he ruled Elihus death the result of non-accidental head injuries.

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In document after document, Wisconsin officials essentially cut-and-pasted Rabbitts technical findings as evidence of abuse, without context or analysis. As a detective told Santiago, Its science.

A review of contracts and correspondence from several states shows a close relationship between child-welfare departments and child-abuse pediatricians.

Child-abuse pediatricians can have the majority of their salary paid by child welfare. Take Houstons UTHealth: Last year, the Texas child-welfare department covered 62 percent of the lead child-abuse pediatricians salary, or about $113,000, plus $24,000 in benefits, $13,000 in travel for her team, and supplies such as computer disks. Contractually, the child-abuse-pediatrics team must assess cases, testify, and send the child-welfare agency monthly progress reports.

Child-abuse pediatricians are financially dependent on contracts like these, along with academic institutions or grants, since little of their work with patients is billable. In a 2019 contract, a child-abuse pediatrician at Comer Childrens Hospital, in Chicago, got 75 percent of her salary paid by Illinois child-welfare agency, via an organization coordinating child-abuse pediatricians work. It also paid for most of her team, a total of more than half a million dollars a year. Narang, the Lurie doctor, received about $45,000 of his $233,000 salary from Illinois child-welfare agency via that coordinating organization in 2018.

Once theyve diagnosed abuse, child-abuse pediatricians basically become prosecution witnesses rather than independent investigators. This is clear in e-mails obtained by The Marshall Project between Florida child-abuse pediatricians and the states child-welfare department: A child-welfare lawyer emails a Miami child-abuse pediatrician to get his thoughts on medical records that I received from the parents attorneys. A St. Petersburg pediatrician warns a child-welfare lawyer to look out for a doctor whos been providing irresponsible testimony in child-abuse cases.

The doctors legal sophistication adds to their authority. In recordings of trainings for child-abuse pediatricians reviewed by The Marshall Project, doctors learn about law-school topics such as Frye and Daubert evidentiary hearings, and how certain doctors need to be in order to use the term reasonable degree of medical certainty in courtall you really mean is youre pretty sure youre right, according to the law professor instructing the doctors.

Child-abuse pediatricians defend their work as important and nuanced. Shalon Nienow, a child-abuse pediatrician in San Diego, told me that every consultation takes a minimum of one to two hours, and she often rules out abuse when families descriptions are inconsistent with the injury: Sometimes people assume that a history is inconsistent, and its because they havent taken the time to ask the right questions, she said. Haney, of the American Academy of Pediatrics Council on Child Abuse and Neglect, who is an Omaha child-abuse pediatrician, said that we really understand the ramifications of erring either way, whether it means a child whos returned to a risky situation, or a child who is removed from a loving home.

Spurred by press coverage of questionable child removals, some lawmakers are thinking about ways to fix the system. In Texas, after an NBC News/Houston Chronicle series, legislators are considering asking child-welfare services to get a second medical opinion before removing children, or asking courts to appoint independent experts to evaluate medical assessments.

Another solution starts with analysis of outcomes in previous cases. In instances of missed abuse, who missed it and how? In cases where a pediatrician diagnosed abuse, what happened later? Krugman, a professor at the University of Colorado School of Medicines Kempe Center, a pediatric-abuse division, recently co-founded an organization to fund research on and raise awareness of child abuse.

I cant think of any other field, he says, where they practice without having any idea what the outcomes of their practice are.

Eli Newberger also urges data-based efforts. Doctors make mistakes all over the place, but in this area of practice, theres no review, he said.

In jail, his baby dead, Santiago bought sleeping pills: a few at a time, collecting enough to kill himself.

Galarza, on the outside, wasnt faring much better. I didnt go upstairs at all, where Elihus room was, she said. Shed drive by railroad tracks and imagine driving into an oncoming train.

One of Santiagos older brothers, a truck driver, who lived with the couple, insisted that Galarza come with him on the road so he could keep an eye on her. He would make a little bed in the middle and I would sleep there til the next day, she said.

In jail, Santiago fell out of contact with his older children; their mother brought them to visit just once, he said. He lost joint custody and missed thousands of dollars in child-support payments, which hed never been late on before. Unable to afford the Racine house, Galarza and Santiagos brother gave it up, sold furniture, gave away Santiagos dogs, and moved into an RV. Santiagos brother asked him what to keep from his house. I just told him, save at least my sons clothes and his crib, Santiago said.

After more than a year and a half in jail, Santiago was released on bond in December 2018. From the start, Mindy Nolan and his other lawyer, Erin Preston, had raised the possibility of genetic issues. But testing Galarzas and Santiagos blood took months. In the spring of 2019, Nolan and Preston received the results. Both parents had markers to indicate a Factor VII abnormality: They lacked a clotting agent that Elihu appeared to have lacked too. The lawyers consulted a bleeding expert. He said that Elihu had likely inherited the Factor VII deficiency, which can cause excessive bleeding and strokes.

The prosecutor took these results to the medical examiner and Rabbitt. The medical examiner changed his mind, saying he believed Elihu had had a congenital bleeding disorder that could have caused his death. Rabbitt altered her position only slightly, now saying it was likely that Elihu had been abused, rather than by a reasonable degree of medical certainty, the prosecutor wrote in a letter to the judge.

In June 2019, three weeks before trial, the prosecutor dropped the case. Judge Wynne P. Laufenberg, in granting the prosecutions motion, advised Santiago to undergo genetic counseling or parental counseling and education before you are to bring another child into this world with Galarza. She advised Santiago to express his gratitude for his public defenders work by never causing yourself to be charged with another felony.

A few weeks later, Santiago and Galarza sat in her parents house in Humboldt Park, Chicago, where the couple now live. Her mom was in the kitchen, making chiles rellenos, and oil sizzled and popped as they talked. Santiago was unemployed; hed been working since he was 16, and had nothing to show for it. He was living with his girlfriends parents. His son was gone. I lost everything, he said.

The year improved. Galarza went to work as a dental assistant. Santiago got an overnight shift printing labels for yogurt. They saved up for their own place. And, in December, they had a healthy baby girl. They named her Glendalyz Santiago. So shell have something from her mother, her father, and her brother, they gave her the middle name Elih.

Read the rest here:
Two Families, Two Fates: When the Misdiagnosis is Child Abuse - The Marshall Project

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