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How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial – DocWire…

November 7th, 2020 5:54 am

Background:Emotional distress associated with genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is reported to interfere with adherence to treatment and prophylactic measures and compromise quality of life.

Objectives:To determine levels of anxiety, depression, and quality of life in patients tested for pathogenic BRCA1/2 mutations and identify risk factors for the development of adverse psycho-emotional effects.

Methods:Cross-sectional observational trial involving 178 breast or ovarian cancer patients from a referral cancer hospital in Northeastern Brazil. Information was collected with the Hospital Anxiety and Depression Scale (HADS) and the World Health Organization (WHO) Quality of Life (QoL) questionnaire (WHOQOL-BREF).

Results:Patients suspected of HBOC had higher levels of anxiety than depression. The presence of (probably) pathogenic BRCA1/2 mutations did not affect levels of anxiety and depression. High schooling, history of psychiatric disease, and use of psychotropic drugs were directly associated with high anxiety. High schooling was too inversely associated with QoL as such a breast tumor. Anxiety and depression were directly correlated and both reduced significantly QoL.

Conclusion:Our results highlight the importance of psychological support and screening of risk factors for anxiety and depression and low QoL in HBOC patients at the time of testing.

Keywords:Anxiety; Breast cancer; Depression; Hereditary breast and ovarian carcinoma syndrome; Quality of life.

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Largest Study To-Date Focused on Undiagnosed Genetic Disease Patients Reveals That Bionano’s Optical Genome Mapping Technology Can Diagnose…

November 7th, 2020 5:54 am

SAN DIEGO, Nov. 05, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a study led by scientists and clinicians from the Institute for Human Genetics and the Benioff Childrens Hospital at the University of California, San Francisco (UCSF) that evaluated the ability of Bionanos optical genome mapping technology and another genome analysis method to diagnose children with genetic conditions who previously went undiagnosed by the standard of care methods alone. Of the 50 children in the study, the optical genome mapping results were sufficient to definitively diagnose 6 patients (or 12%) and, for another 10 patients (or 20%), the Bionano data revealed candidate pathogenic variants. Upon further analysis, it is expected that an additional 3 patients could be diagnosed with the Bionano data, bringing the total of definitively diagnosed patients to 9 (or 18%).

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, Increasing the number of patients who receive a definitive molecular diagnosis is the driving force behind much of the development of new diagnostic technologies. Every major change in medical guidelines connected to introducing novel methods has been driven by the ability of new methods to diagnose more patients than the previously existing standard of care. This study by the UCSF team shows that Bionanos optical genome mapping can potentially bring another such leap to the clinic by diagnosing many more patients than what existing chromosomal microarray (CMA) and whole exome sequencing (WES) can. Several studies released this year have shown that Saphyr can detect all clinically relevant variants identified by karyotyping, microarray and FISH in both leukemias and genetic disease cases. This UCSF study now shows in the largest cohort analyzed to date that Bionanos optical genome mapping diagnoses more patients than the traditional methods. We believe the increase in diagnosis over conventional methods can be a significant factor in Saphyr gaining widespread adoption as a clinical tool for genetic disease diagnosis and next-generation cytogenomics.

As described in the publication, the UCSF team performed full genome analysis by combining optical genome mapping with Bionano technology and linked-read sequencing on 50 undiagnosed patients with a variety of rare genetic diseases and their parents to determine if this full genome analysis method could help solve cases that had not been diagnosed with previous testing. Of the 50 cases, 42 were previously analyzed by CMA, the first tier medical test for genetic disease cases, and 23 had previously been analyzed with commercial trio whole exome sequencing, and no pathogenic or likely pathogenic variants were identified by these methods.

Bionanos optical genome mapping technology identified a number of pathogenic variants unidentified by CMA and undetectable by WES, including duplications and deletions that were too small to be identified by CMA, or occurred in regions of the genome not typically covered by CMA or WES. Of the additional 7 patients with variations considered to be candidates for pathogenic variants, the findings included deletions, duplications, and inversions. Before concluding that these variants are sufficient to diagnose the patients, further analysis is required since these variants had not previously been reported in patients with similar disease.

The publication is available at: https://www.medrxiv.org/content/10.1101/2020.10.22.20216531v1A recording of the webinar is available at: https://bionanogenomics.com/webinars/optical-mapping-in-rare-genetic-disease-diagnosis/

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

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) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the contribution of Bionanos technology to the diagnosis of more genetic disease patients when compared to traditional standard of care methods; the capabilities of Bionanos technology in comparison to other genome analysis technologies; our expectations regarding the adoption of Saphyr as a clinical tool for genetic disease diagnosis and next-generation cytogenomics; and Bionanos strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

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Largest Study To-Date Focused on Undiagnosed Genetic Disease Patients Reveals That Bionano's Optical Genome Mapping Technology Can Diagnose...

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Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19 – Eurowire

November 7th, 2020 5:54 am

Trusted Business Insights answers what are the scenarios for growth and recovery and whether there will be any lasting structural impact from the unfolding crisis for the Rare Disease Genetic Testing market.

Trusted Business Insights presents an updated and Latest Study on Rare Disease Genetic Testing Market 2020-2029. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market.The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Rare Disease Genetic Testing market during the forecast period (2020-2029).It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary, and SWOT analysis.

Get Sample Copy of this Report @ Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19

Report Overview: Rare Disease Genetic Testing Market

The global rare disease genetic testing market size was valued at USD 690.1 million in 2020 and is projected to register a Compound Annual Growth Rate (CAGR) of 8.8% from 2021 to 2027. Misdiagnosis can result in interventions that could later be considered inappropriate for the underlying disorder. Thus, the need for an accurate and timely diagnosis for rare conditions drives the demand for genetic testing. Currently, the lack of awareness pertaining to these conditions is one of the primary challenges for the market. Thus, several efforts are being undertaken to help raise awareness about various aspects of rare and ultra-rare diseases, such as the challenges pertaining to diagnosis and clinical implementation of available diagnostic approaches.

Companies like Shire Plc are engaged in supporting domestic diagnostic testing for rare disorders in certain countries and offer learning programs for healthcare experts on genetic testing. Every country has developed its registry for rare diseases that acts as a focal point of information on these conditions. Patient registries and databases play a integral role in clinical research in the field of rare diseases and help in improving healthcare planning and patient care.

A rise in the number of available registries is one of the major driving factors of the market as it enables pool data to achieve a sufficient sample size for epidemiological and/or clinical research. Furthermore, technological advancements in data collection and interpretation for clinical practice has driven the market. Companies are making efforts to ensure efficient data collection from various ethnicities, which is expected to aid in the diagnosis of thousands of patients with the same condition.

In addition, companies, such as Centogene, combine genetic testing with metabolomics and proteomics to make their data analysis process as accurate as possible. The multi-omics approach helps better understand the impact of a given mutation on the protein as well as at the metabolite level. The company has also introduced a system to simplify the sample collection process, thereby driving the adoption of genetic tests for rare disease diagnosis.

Disease Type Insights: Rare Disease Genetic Testing Market

Neurological disorders segment accounted for the largest share of 12.9% in 2019. A substantial number of commercially-approved genetic tests for neurologic conditions coupled with a high prevalence of neurological diseases has accelerated the revenue growth in this segment. Tests offered by companies are recommended by several medical institutes, such as the American Academy of Neurology, American College of Medical Genetics, and Child Neurology Society.

Furthermore, the advent of high-throughput techniques, such as exome sequencing and whole-genome sequencing, has offered lucrative opportunities for companies offering tests for diseases, such as X-ALD. Exome sequencing and whole-genome sequencing have helped in addressing complicated cases of X-ALD that present an atypical disease course.

Moreover, immunologic disorders, such as Multiple Sclerosis (MS), are among the most prevalent rare diseases. The genetic profile of MS is one of the key focus areas among researchers in this field. This is primarily to obtain relevant insights pertaining to the causes and underlying physiology of diseases, resulting in a significant share of this segment.

End-use Insights: Rare Disease Genetic Testing Market

Research laboratories & CROs captured the maximum share of 46.9% of the market in 2019. This is primarily because in a substantial number of cases, blood samples collected from patients are sent to a laboratory for testing. Laboratories offer testing based on various specialties, including molecular, chromosomal, and biochemical genetic tests. For instance, ARUP Laboratories offers testing in molecular genetics, cytogenetics, genomic microarray, and biochemical genetics.

Laboratories also offer genetic counseling services that further accelerate the uptake of services among patients. Moreover, molecular genetic testing-based laboratory testing is rapidly increasing worldwide. Genetic tests are conducted by multiple laboratories, including those that are accredited with CLIA for clinical cytogenetics, pathology, and chemistry, among other specialties. These companies are involved in expanding their test portfolio by undertaking various strategic initiatives.

For instance, in January 2020, Quest Diagnostics acquired Blueprint Genetics to enhance its expertise in genetic disorders and rare diseases. Furthermore, in June 2018, Centogene launched its diagnostic laboratory in Cambridge, Massachusetts. Such initiatives depict the growing interest of diagnostic centers in genetic testing of rare diseases, which is likely to boost segment growth.

Technology Insights: Rare Disease Genetic Testing Market

Next Generation Sequencing (NGS) accounted for the largest share of 36.6% in 2019 owing to the high usage of Whole Exome Sequencing (WES). WES is being considered a highly potential method in a case where the genetic cause of disease is unknown and is difficult to identify. WES is becoming the standard of care for patients with undiagnosed rare diseases. This is attributed to the fact that exons make up around 1.5% of an individuals genome and contain 85% of all known disease-causing mutations.

Moreover, with the declining costs of WES, the cost of genetic testing is also anticipated to reduce significantly, making the test more affordable and accessible. In addition, medical coverage for WES-based genetic tests has favored segment growth. A substantial number of private health insurance agencies cover all or part of the cost of genetic testing, post recommendation by a healthcare professional. As compared to WES, clinical Whole Genome Sequencing (WGS) has lesser demand.

However, with a continuous decrease in cost, adoption of WGS is expected to amplify. For instance, the Rady Childrens Institute for Genomic Medicine offers singleton-rapid WGS and a trio-rapid WGS at a reasonable cost. In February 2020, Dante Labs launched an initiative to offer WGS to patients with rare diseases for USD 299. The service included WGS 30X on Novaseq6000 technology, data interpretation, and personalized therapy on these diseases.

Specialty Insights: Rare Disease Genetic Testing Market

Accounting for more than 40% revenue share, molecular genetic tests led the market in 2019. Rapid technological advancements and expertise in handling & managing high throughput technologies within clinical settings have driven the revenue in this segment. Molecular genetic test methods enable investigating single genes or short lengths of DNA for the detection of mutations or variations leading to genetic disorders.

Apart from rare diseases, the method also covers testing of ultra-rare diseases, which will augment the segment growth in future. Biochemical genetic tests are expected to register the second-fastest CAGR during the forecast period owing to their efficiency to assess the activity and amount of proteins & related abnormalities for the identification of changes in the DNA that can cause a metabolic disorder.

Also, the companies are expanding their test portfolio to capitalize on the potential opportunities present in this segment. In September 2019, Blueprint Genetics collaborated with ARCHIMEDlife to launch high-quality biochemical tests for rare diseases. Such developments are anticipated to boost the revenue share of the segment in the coming years.

Regional Insights: Rare Disease Genetic Testing Market

North America accounted for the largest market share of over 47% in 2019. Factors, such as high incidence of rare disorders, a large number of rare disorders registries, and the presence of substantial numbers of R&D facilities for rare & ultra-rare diseases, and extensive investments in the diagnosis of rare disorders in the region drives the market growth. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. Moreover, the number of patients undergoing disease testing is expected to increase in the coming years, thereby supporting market growth.

Asia Pacific is expected to register the fastest CAGR from 2020 to 2027 due to rising awareness and target population in Asian countries. China is attempting to shift the attention of the healthcare system towards the diagnosis and treatment of rare disorders. The government in the country has included rare disease management as a public health priority in its 2030 roadmap titledHealthy China 2030. Furthermore, in June 2018, the country released its first list of rare disorders to enable the patients to find solutions effectively at their local hospitals.

Key Companies & Market Share Insights: Rare Disease Genetic Testing Market

The development of technologies, such as WES & WGS, has significantly transformed genetic testing space by offering convenient and cost-effective methods that can be conducted for a wide range of conditions across multiple clinical settings. As a result, major diagnostic companies are engaged in expanding their product portfolio that can be used to conduct tests for rare and ultra-rare conditions.

In addition, they have undertaken various initiatives, such as mergers & acquisitions, to expand their offerings and subsequently strengthen their presence in this market. For example, the acquisition of GeneDX by OPKO. The acquisition helped the latter company to expand its business in the market. Similarly, Quest strengthened its presence in the market with the acquisition of Blueprint Genetics. Another important acquisition in the market is Qiagens acquisition by Thermo Fisher.

The companies have signed an agreement in March 2020; however, it is targeted to be completed by the first quarter of 2021, as ThermoFisher Scientific is lining up finances for the USD 11.5 billion deal, with an offering worth $2.2 billion. This deal is expected to impact the life science tools and reagents market significantly. With regard to rare disorder genetic testing, Thermo Fisher Scientific is engaged in research and provides sequencing for the Osteogenesis imperfecta and Vascular Ehlers-Danlos syndrome. Some of the prominent players in the rare disease genetic testing market include:

Key companies Profiled: Rare Disease Genetic Testing Market Report

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest industry trends in each of the sub segments from 2016 to 2027. For the purpose of this study, Trusted Business Insights has segmented the global rare disease genetic testing market report on the basis of disease type, technology, specialty, end use, and region:

Disease Type Outlook (Revenue, USD Million, 2016 2027)

Technology Outlook (Revenue, USD Million, 2016 2027)

Specialty Outlook (Revenue, USD Million, 2016 2027)

End-use Outlook (Revenue, USD Million, 2016 2027)

Looking for more? Check out our repository for all available reports on Rare Disease Genetic Testing in related sectors.

Quick Read Table of Contents of this Report @ Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19

Trusted Business InsightsShelly ArnoldMedia & Marketing ExecutiveEmail Me For Any ClarificationsConnect on LinkedInClick to follow Trusted Business Insights LinkedIn for Market Data and Updates.US: +1 646 568 9797UK: +44 330 808 0580

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Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19 - Eurowire

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Odell Beckham Jr. Won the Genetic Lottery With His Athletic Parents – Sportscasting

November 7th, 2020 5:54 am

Odell Beckham Jr.s time in Cleveland hasnt lived up to expectations. Regardless, hes been one of the biggest NFL stars for most of his career. Hes put in plenty of work to become a great wide receiver, but his lineage gave him tools to succeed, too. Athletic excellence is a generational touchstone in the Beckham family. Both of his parents played sports at a high level, but they werent OBJs only relatives to do so.

A number of videos show Odell Beckham Jr. displaying his athleticism in sports other than football. Here he is playing soccer with more finesse and confidence than some members of the U.S. Mens national team:

In this clip, Beckham swings for the fences:

He can also throw down dunks worthy of a dunk contest:

Beckham can also kick field goals and throw a football well enough to be a backup quarterback. Having these talents plus his elite receiving ability is just Beckham running up the score. His touchdown pass against the Cowboys in his rookie season thrust him into the spotlight. Beckham backed it up by becoming a consistently brilliant outside threat.

In each of his first three seasons, Beckham made the Pro Bowl.The only two years he hasnt accrued over 1,000 receiving yards ended with an injury after four games. And he did it without an elite quarterback at any point. It likely explains why some critics look for any chance to discredit him or place the failures of a team on his shoulders. Its easy to be jealous of a man who is rich, gifted, and handsome.

RELATED: Odell Beckham Jr. Came Extremely Close to Calling It Quits

While the rest of us were gawking at Beckhams incredible dexterity for that catch against the Cowboys, his father didnt think it was a big deal. In most other cases, this would be an example of parents having unfair standards for their kid, the history of the Beckham family makes it more understandable that they would be nonplussed by plays like that. Such feats are not rare in their family.

Odell Beckham Sr. also played college football at LSU, starting at running back for nine of the 28 games he played for the Tigers from 1989 to 1992. His mother, Heather Van Norman, went a step further at the school and became one of the best track and field stars in school history, according to Fanbuzz.

She arrived onto campus in 1989 and was an All-American in all six years of her college career. In addition to that, she won three straight NCAA outdoor titles from 1991 to 1993, two indoor national titles (1991 and 1993) and won both indoor and outdoor SEC titles in 1993 and 1995.

RELATED: Odell Beckham Jr. and Kevin Durant Invested Heavily in the Future of Esports

Van Norman was such a physical specimen that even creating a life couldnt get her off the track. In 1992, she realized she was pregnant with Odell while she was preparing for the Olympic trials. She continued to run every day until she gave birth.

The athletic lineage goes even further, according to the New York Daily News. Odells grandmother, Margaret Sauls Jones, said played basketball, volleyball, ran track, and threw the discus at Dunbar-Meredith High in Temple, Texas.

Even his stepfather, Derek Mills, was a Gold medalist in the 1996 Olympic Games. Mills also ran as part of the United States 4X400 Relay and also appeared in the 1995 World Championship where he was ranked as high as No. 2 in the world the 400 meters. Odell was destined to be a top-level player in whatever sport he chose.

Beckhams career has hit a crossroads in Cleveland. Hes struggled to put up big numbers on a regular basis, but its hard to know how much of his underperformance is down to him, the general mediocrity of Baker Mayfield, and the borderline incompetence of the Browns front office. Beckhams dealt with injuries before, but nothing as serious as the torn ACL he suffered against the Cincinnati Bengals.

Its tough to foresee what his future in the NFL will be. Rumors about him leaving Cleveland have circled him ever since he put on the uniform, and if Mayfield continues to inexplicably play well without his most talented wideout, then there will be louder calls to get rid of him.

Theres also no way to know what kind of player Beckham will be until he gets back on the field. Considering the gap between him and most other athletes, he has much more room for ever than the majority of his peers.

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Odell Beckham Jr. Won the Genetic Lottery With His Athletic Parents - Sportscasting

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Gene therapy for autism-linked condition weakened legs, robbing two people of ability to walk – Science Magazine

November 7th, 2020 5:53 am

A new gene therapy may lessen traits of Angelman syndrome, but its makers may need to limit the dose.

By Giorgia Guglielmi, SpectrumNov. 5, 2020 , 9:30 AM

Originally published onSpectrum

A small clinical trial of a gene therapy for Angelman syndromea rare genetic condition related to autismis on hold after two participants temporarily lost the ability to walk. The safety issue is important to resolve, experts say, given that the therapy otherwise appears to be effective, and the trial could guide treatment strategies for similar brain conditions.

Biopharmaceutical companyUltragenyxin Novato, California, in collaboration with Florida-based biotech startupGeneTx, launched the trial in February to assess the safety of a therapy forAngelman syndrome, a neurodevelopmental condition characterized by intellectual disability, balance and motor problems, seizures, sleep problems and, in some cases, autism.

Angelman syndrome results from the mutation or absence of a gene calledUBE3A. People inherit two copies of UBE3A. Typically, only the maternal copy is active in neurons and the paternal copy is silent. But in people with Angelman syndrome, the maternal copy is mutated or missing, so their brain cells express no active UBE3A protein.

The drug developed by Ultragenyx and GeneTx, called GTX-102, is a short snippet of RNA called an antisense oligonucleotide thatactivates the paternal copy of UBE3Aand aims to restore the protein to typical levels. Three other companiesRoche, Biogen, and Ionisare pursuing similar therapies for the syndrome.

On 26 October, Ultragenyx and GeneTx reported that the clinical trial hadenrolled five individualswith Angelman syndrome, aged 5 to 15. The plan had been to administer to each participant a dose of GTX-102 once a month over four months. Researchers injected the drug directly into the nutrient-rich solution that envelops the brain and spinal cord through a site in the lower back.

The participants were to receive increasing doses, but all started with different amounts: Two began at the lowest dose, two started with the second-lowest dose, and one started at the second-highest dose. The final dose was about 10 times higher than the lowest dose.

After a single dose at the second-highest level, one participant developed leg weakness. The other four participants experienced the same adverse effect after taking the highest dose. The symptoms emerged one to four weeks after the participants last dose.

Two of the patients were not able to support themselves to walk and three were, but they were weaker, saysElizabeth Berry-Kravis, professor of child neurology at Rush University Medical Center in Chicago, Illinois, where the five children were treated.

The side effects appear to be a result of inflamed nerves where the drug was injected, perhaps due to accumulation of the drug in that area. In animal studies, the drug didnt cause similar adverse effects, says Ultragenyx chief executive officer,Emil Kakkis. We do know, though, that antisense oligonucleotides are known to have local toxic effects if given at high concentrations.

The participants all recovered after they received drugs that decrease inflammation, Berry-Kravis says. Even those who couldnt support themselves on their legs are walking around finethey actually are somewhat more coordinated now than they were before the study.

When the researchers evaluated the participants at day 128, all five showed significant improvements in some traits, including communication, sleep, and motor skills, Berry-Kravis says. Within weeks of the initial doses, parents and caregivers reported that the participants had acquired new words and gestures.

Were seeing things like using a fork independently for the first time ever, learning to swim on their own, using their augmentative communication device, being able to play an interactive game with the family, Berry-Kravis says. But, she adds, you cant go on with an adverse event.

Going forward, the companies plan to limit the maximum dose to a range in which the drug appears to improve traits without causing leg weakness. They also intend to change how they administer the drug so it cannot accumulate at the site of injection. The drug solution will be given to the patient with their head down to allow the drug to flow toward the brain more efficiently, Kakkis says.

Before resuming the study, the companies will seek approval from the U.S. Food and Drug Administration, says Scott Stromatt, chief medical officer of GeneTx. We hope dosing will start in the next one to two months, he says. Parents are pretty excited to resume because of the positive changes theyve observed in their children.

All drugs have a side effect at some point, saysMark Zylka, professor of cell biology and physiology at the University of North Carolina at Chapel Hill, who was not involved in the study. It seems like theyre just going to need to dial in the dosage better.

Zylka is working on atherapy for Angelman syndromethat uses the gene-editing technology CRISPR to unmute the paternal copy of UBE3A. The rapid improvement observed in the trial participants is encouraging, he says. It suggests that this idea of turning on the dads copy of the gene really has the potential to help individuals with Angelman.

Others are excited about what the trial results might mean for other brain conditions. One of the biggest questions in the field is how long the therapeutic window remains open in neurodevelopmental disorders like Angelman syndrome, saysTimothy Yu, assistant professor of pediatrics at Harvard University. The preliminary findings from the Ultragenyx and GeneTx trial suggest that the therapy can work even in teenagers.

Its still early days, and we have to be careful, Yu says. But if this result continues to hold true, thats going to be really game-changing.

This article was reprinted with permission fromSpectrum,the home of autism research news and analysis.

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Gene therapy for autism-linked condition weakened legs, robbing two people of ability to walk - Science Magazine

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Gene therapy trial for autism-linked condition is put on hold – Spectrum

November 7th, 2020 5:53 am

Stand by: A new gene therapy may lessen traits of Angelman syndrome, but its makers may need to limit the dose.

Courtesy of Ultragenyx

A small clinical trial of a gene therapy for Angelman syndrome a rare genetic condition related to autism is on hold after two participants temporarily lost the ability to walk. The safety issue is important to resolve, experts say, given that the therapy otherwise appears to be effective, and the trial could guide treatment strategies for similar brain conditions.

Biopharmaceutical company Ultragenyx in Novato, California, in collaboration with Florida-based biotech startup GeneTx, launched the trial in February to assess the safety of a therapy for Angelman syndrome, a neurodevelopmental condition characterized by intellectual disability, balance and motor problems, seizures, sleep problems and, in some cases, autism.

Angelman syndrome results from the mutation or absence of a gene called UBE3A. People inherit two copies of UBE3A. Typically, only the maternal copy is active in neurons and the paternal copy is silent. But in people with Angelman syndrome, the maternal copy is mutated or missing, so their brain cells express no active UBE3A protein.

The drug developed by Ultragenyx and GeneTx, called GTX-102, is a short snippet of RNA called an antisense oligonucleotide that activates the paternal copy of UBE3A and aims to restore the protein to typical levels. Three other companies Roche, Biogen and Ionis are pursuing similar therapies for the syndrome.

On 26 October, Ultragenyx and GeneTx reported that the clinical trial had enrolled five individuals with Angelman syndrome, aged 5 to 15. The plan had been to administer to each participant a dose of GTX-102 once a month over four months. Researchers injected the drug directly into the nutrient-rich solution that envelops the brain and spinal cord through a site in the lower back.

The participants were to receive increasing doses, but all started with different amounts: Two began at the lowest dose, two started with the second-lowest dose, and one started at the second-highest dose. The final dose was about 10 times higher than the lowest dose.

After a single dose at the second-highest level, one participant developed leg weakness. The other four participants experienced the same adverse effect after taking the highest dose. The symptoms emerged one to four weeks after the participants last dose.

Two of the patients were not able to support themselves to walk and three were, but they were weaker, says Elizabeth Berry-Kravis, professor of child neurology at Rush University Medical Center in Chicago, Illinois, where the five children were treated.

The side effects appear to be a result of inflamed nerves where the drug was injected, perhaps due to accumulation of the drug in that area. In animal studies, the drug didnt cause similar adverse effects, says Ultragenyx chief executive officer, Emil Kakkis. We do know, though, that antisense oligonucleotides are known to have local toxic effects if given at high concentrations.

The participants all recovered after they received drugs that decrease inflammation, Berry-Kravis says. Even those who couldnt support themselves on their legs are walking around fine they actually are somewhat more coordinated now than they were before the study.

When the researchers evaluated the participants at day 128, all five showed significant improvements in some traits, including communication, sleep and motor skills, Berry-Kravis says. Within weeks of the initial doses, parents and caregivers reported that the participants had acquired new words and gestures.

Were seeing things like using a fork independently for the first time ever, learning to swim on their own, using their augmentative communication device, being able to play an interactive game with the family, Berry-Kravis says. But, she adds, you cant go on with an adverse event.

Going forward, the companies plan to limit the maximum dose to a range in which the drug appears to improve traits without causing leg weakness. They also intend to change how they administer the drug so it cannot accumulate at the site of injection. The drug solution will be given to the patient with their head down to allow the drug to flow toward the brain more efficiently, Kakkis says.

Before resuming the study, the companies will seek approval from the U.S. Food and Drug Administration, says Scott Stromatt, chief medical officer of GeneTx.

We hope dosing will start in the next one to two months, he says. Parents are pretty excited to resume because of the positive changes theyve observed in their children.

All drugs have a side effect at some point, says Mark Zylka, professor of cell biology and physiology at the University of North Carolina at Chapel Hill, who was not involved in the study. It seems like theyre just going to need to dial in the dosage better.

Zylka is working on a therapy for Angelman syndrome that uses the gene-editing technology CRISPR to unmute the paternal copy of UBE3A. The rapid improvement observed in the trial participants is encouraging, he says. It suggests that this idea of turning on the dads copy of the gene really has the potential to help individuals with Angelman.

Others are excited about what the trial results might mean for other brain conditions. One of the biggest questions in the field is how long the therapeutic window remains open in neurodevelopmental disorders like Angelman syndrome, says Timothy Yu, associate professor of pediatrics at Harvard University. The preliminary findings from the Ultragenyx and GeneTx trial suggest that the therapy can work even in teenagers.

Its still early days, and we have to be careful, Yu says. But if this result continues to hold true, thats going to be really game-changing.

See the article here:
Gene therapy trial for autism-linked condition is put on hold - Spectrum

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Hemophilia Gene Therapy Market: Growing prevalence of diseases related to blood clotting or bleeding to drive the market – BioSpace

November 7th, 2020 5:53 am

Global Hemophilia Gene Therapy Market: Overview

The global hemophilia gene therapy market is predicted to increase at a stellar pace in the years to follow. The medical fraternity has shown immense resilience in dealing with bleeding disorders, backed by the research excellence of the microbiology sector. The growing incidence of diseases related to genetic dysfunctions has out the healthcare industry on its toes. Research related to genetic mutations have given an impetus to the healthcare sector. There has been a renewed interest in genetic studies amongst researchers and scientists. The commendable results achieved from next-generation genetic studies has created a myriad of opportunities for growth within healthcare. The aforementioned factors are expected to drive sales across the global hemophilia gene therapy market.

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This review on the global hemophilia gene therapy market gives a concise description of the leading factors responsible for market expansion. The review analyses the growing relevance of gene therapies to make forecasts related to market expansion. The trends and propensities exhibited by the healthcare sector have also been enunciated herein. Henceforth, the review is an evidence-based commentary on the factors that can drive market demand over the near future. The COVID-19 crisis has had adverse impacts on several markets and industries, save the healthcare sector. Therefore, the review also points to the marked increase in revenues across this market due to the pandemic.

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Global Hemophilia Gene Therapy Market: Competitive Dynamics

Next-generation DNA sequencing and genetic mutations have played a vital role in enhancing healthcare treatments across a range of specializations. For this reason, leading players in the hemophilia gene therapy market are upping their game with genetic research. The ability of these vendors to produce visible results in patient care shall be a sound driver of market demand. A number of companies are also assisting patients in defining their own clotting factor with the help of new aids and technologies.

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Some of the market vendors have acquired visible expertise in the use of a modified virus for treatment of blood clotting. This virus is different from the one that caused the disease, enabling it to help in encoding the clotting factor. Market players can grow at the back of these advancements and distinctions over the next decade. Some of the leading vendors operating in the global hemophilia gene therapy market are Spark Therapeutics, UniQure NV, Pfizer, Inc., Ultragenyx Pharmaceutical, and Shire PLC Sangamo Therapeutics, Inc.

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Global Hemophilia Gene Therapy Market: Key Trends

The presence of a seamless industry for studying and analysing diseases related to blood clotting or bleeding has given an impetus to market growth. The next decade is expected to witness a surge in demand for hemophilia treatments. The proven excellence of gene therapy in preventing excessive bleeding in ailing individuals shall also play a vital role in market growth and maturity.

Prolonged external or internal bleeding can also be a cause of several other diseases and disorders. This has also led to increased investments in treatment of diseases related to blood clots. The next decade is expected to usher an era of advancements in gene therapy, giving a thrust to growth across the global market.

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Global Hemophilia Gene Therapy Market: Regional Landscape

On the basis of regions, the global hemophilia gene therapy market can be segmented into North America, Asia Pacific, South America, Europe, and the Middle East and Africa. The excellence of the US and Canada in gene therapy has given a thrust to the growth of the North America hemophilia gene therapy market.

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Bringing Flexion’s OA Gene Therapy to Market Starts with Cost and Benefits in Mind – BioSpace

November 7th, 2020 5:53 am

As more and more gene therapies are approved, the elements that determine their success depend, increasingly, on the business decisions made early on.

There is nuance to every program but, (across-the-board) the cost of production is a big challenge, Mike Clayman, M.D., CEO and co-founder of Flexion, told BioSpace.

Flexions lead candidate, FX201 (humantakinogene hadenovec), is a case in point. This is an intra-articular gene therapy product for osteoarthritis (OA). It uses a helper-dependent adenovirus (HDAd) vector whose genetic construct the payload is a gene that expresses the interleukin-1 receptor antagonist (IL-1Ra) in the joint to control inflammation.

Inflammation is a known cause of pain, and chronic inflammation is believed to play a key role in the progression of OA, he explained.

FX201 is taken up rapidly by cells lining the joint, converting them into factories to make IL-1Ra. It quells the inflammation and then turns off the gene construct, Clayman said. It has the potential to provide long-term pain relief, functional improvement, and to actually delay the progression of the disease.

By injecting the product directly into the approximately 5 ml volume of the knee joint, he continued, The absolute amount of protein you need to create an effective intra-articular concentration is far less than that which would be needed to achieve systemic therapeutic levels. That translates into what we expect will be much lower doses of FX201, which would reduce manufacturing cost and give us flexibility to charge a price that would still be proportional to value delivered.

The product entered Phase I, a single ascending dose study, this year. Preclinical work suggests that once injected, there is no significant distribution outside the joint.

It is a non-integrating, non-replicating vector, Clayman said. There is preclinical evidence that it delivers meaningful improvement for at least one year, with the slowing of disease progression.

Company scientists believe a single injection FX201 has the potential to provide at least 6 to 12 months of pain relief and functional improvement in addition to possibly slowing disease progression, Clayman said. We believe this product profile, if realized, would represent a transformative new treatment for knee OA.

Currently, Flexion is actively pursuing the possibility of identifying sub-populations of OA patients who may differentially benefit, Clayman said.

The initial study is open broadly to OA patients to evaluate safety and tolerability. Once those data are analyzed, he said subsequent studies will consider and, if possible, incorporate biomarker, phenotypic or genotypic criteria to focus on a more restricted population.

There may be a marker perhaps a serum marker to identify a patient subset that may most benefit from the therapy, Clayman said. With 15 million patients in the U.S. with knee symptoms of OA, and 8 million annual injections to relieve knee pain, it behooves companies to identify a focal population that can most benefit.

But, he acknowledged, The genetics of OA are very complex. Its clearly a multigene disease with additional contributions from environmental and other external factors. Its not as though there are clearly defined genetic subtypes of the disease.

FX201 isnt the first OA product Flexion has developed. Zilretta (triamcinolone acetonide extended-release injectable suspension), an extended-release, intra-articular corticosteroid, was approved by the FDA in 2017 to relieve OA-related knee pain. In Phase III trials, it significantly reduced knee pain for 12 weeks and, for some patients, 16 weeks or more. Since approval, it has completed a Phase IIIb trial for synovitis.

Flexion also is developing FX301 (funapide, a selective sodium channel blocker, formulated in a thermosensitive gel) for acute post-operative pain.

This isnt a gene therapy, Clayman said. This is a peripheral nerve block that is expected to enter the clinic in 2021. The preclinical data so far suggest it may durably prevent post-op pain while preserving motor function.

The FDA and EMA are up-to-speed on gene therapy now. At Claymans meetings with the FDA, We had very robust scientific exchanges. I left impressed with the sophistication that was applied to the discussion. The EMA was similarly sophisticated, he said.

Coincidentally, the criteria for RMAT designation comparable to breakthrough designation for other products illustrating the points for clinical conditions, used OA as the example.

This indicates the FDA is thinking about creative approaches to complex diseases, Clayman said. If we have compelling data, we would not hesitate to pursue RMAT designation.

Flexion already has begun its health economics and outcomes research, modeling this therapeutic in terms of its ability to delay the need for knee replacement (which costs $25,000 to $50,000), and quality of life.

Whether payers will reimburse for gene therapies often depends as much on the price as on delivered value.

Our dose likely will give us manufacturing costs that will allow us to price FX201 much lower than a systemic therapy, which puts us in a better position, Clayman said. Of course, We still must generate compelling data.

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The City of Biotech Love – Science Magazine

November 7th, 2020 5:53 am

Known as the City of Brotherly Love, Philadelphia, Pennsylvania, now has a new monickerCellicon Valleyto honor the cell and gene therapies that companies such as Spark Therapeutics are bringing to it.

Science@Work

Nov. 6, 2020 , 2:00 PM

Affectionally named Cellicon Valley, Philadelphia is the birthplace of cell and gene therapy and home to more than 30 companies dedicated to cell and gene therapy research. Philadelphia-based Spark Therapeutics became the first to bring a U.S. Food and Drug Administration (FDA)-approved gene therapy to market and has been expanding its footprint in this biotech hotspot for gene and cell therapy ever since, according to Chief Scientific Officer Federico Mingozzi, Ph.D.

Headquartered in Philadelphia, Pennsylvania, Spark Therapeutics is helping the city become a premier spot for cell and gene therapy.

In 2013, Spark Therapeutics was founded as a result of the technological and scientific know-how developed at the Childrens Hospital of Philadelphia (CHOP). Now part of the Roche Group, the company is committed to further growing Philadelphia as a global hub of cell and gene therapy. With ambitious growth plans, the company remains focused on extending its scientific platform and unique competencies to evaluate and select a portfolio of gene therapies targeting diseases of the retina, hemophilia A, lysosomal storage disorders, and neurodegenerative diseases. They currently have four programs in clinical trials advancing therapies to treat hemophilia A, Pompe disease, and choroideremia.

Chief Scientific Officer Federico Mingozzi, Ph.D.

With Roches worldwide reach and resources, we are closer than weve ever been before to fulfilling our vision of living in a world where no life is limited by genetic disease, Mingozzi says. Although many gene therapy studies focus on genetic diseases, Mingozzi notes, there is an appetite to expand gene therapy to more common indications.

Despite the challenges of 2020, there has been tremendous growth at Spark. The company now employs more than 500 people and has a growing footprint in West Philadelphia. Spark has hired more than 130 employees since the start of 2020 and does not intend to slow down as the company heads into the upcoming year. Part of that expansion brought Senior Research Associate Phillip Price, Ph.D. to Spark in February. Drawn by the companys passion and commitment to treating genetic diseases, Price recalls thinking, I knew I wanted to be part of this.

At the time he was hired by Spark, Price had recently completed his doctorate in neuroscience at Emory University and was serving as a visiting researcher at the Mayo Clinic in Jacksonville, Florida. His strong conviction about the need to bring more treatments to more patients living with genetic disease, in tandem with a seamless interviewing process, propelled Price to make the leap from Florida to Pennsylvania.

Senior Research Associate Phillip Price, Ph.D.

Despite working virtually, Price says he was able to get plugged into the company quickly and find a strong relationship between the employer and the employees, who encouraged both personal and professional growth. Price mentions that the company also made significant efforts to understand and respond to the changing dynamics resulting from the pandemic, such as working remotely. He has benefitted from the strong lines of communication from Sparks leadership andits unique employee programs such as half days every other Friday, which have enabled him to step away from work and relax while learning more about Philadelphia.

Although Price experienced some hesitancy in transitioning from academia to industry, that disappeared when he found that throughout the Spark workforce people are dedicated to the learning, listening, and innovation needed to bring the best treatments to patients. Price appreciates that high level of motivation. Gene therapy is not just about therapeutic targets of the future, he notes. This is here now, and the door is open! At Spark, he finds even more excitement since being a part of Roche provides a platform to reach globally.

With experience in studying spinal muscular atrophy, an inherited disorder, Price fits right in with Sparks central nervous system (CNS) team, which has treatments in its pipeline for other genetic diseases, including Huntingtons disease and Batten disease. Already, he describes the environment as very dynamic and based on beneficial processes that help cultivate ideas. Plus, he quickly felt like part of the team, where he says, everyone has a voice.

This is the hope: Philadelphia will continue to attract and grow the community of biotechnology experts and become one of the most important hubs for gene and cell therapy in the world.

The thriving life sciences industry in Philadelphia also appealed to Price. More than 42,000 Philadelphians work in life sciences and the city is now rated the fifth largest research and development (R&D) hub in the nation, boasting $10.5 billion spent annually in R&D, according to statistics provided by Life Sciences Pennsylvania. Plus, international information firm EqualOcean reports, More than 700 life science companies have chosen to come to Philadelphia to develop their products.

In addition to CHOP, the region is home to a number of other world-class life sciences institutions, including the University of Pennsylvania Perelman School of Medicine, Temple University, and the Drexel University College of Medicine. The combination of Philadelphias academic institutions with the thriving environment it provides for biotech start-ups has resulted in an excellent system for networking and collaborating, according to Price.

Assay development scientist Stephanie Kutza at work in Sparks labs.

Mingozzi agrees. He added that Spark is one of a cluster of many active companies in gene and cell therapy that are creating a vibrant biotech center in the city. Having a hub attracts talent from other cities and retains the talent that is already here, Mingozzi says. For example, he notes that Philadelphia is a place where people come for training and then stay for work. Overall, its an incredible success story for Philadelphia, and the field of gene and cell therapy is driving this success, he says.

Still, Mingozzi sees this as just the beginning for Philadelphia. Youll see that the driver of this hub will be a couple of companies, like Spark, and that people trained in Philadelphia will start new companies here, he says. Then gene therapy will become a major contributor for the local economy.

This diverse city, however, offers much more than science. Price lives downtown, which he describes as a very lively and inspiring atmosphere. As a history buff, he enjoys exploring Philadelphia with its many important sites, including Independence Hall, the Liberty Bell and the Betsy Ross House. Thinking of the architecture, museums, and parks, Price has nothing but appreciation for the City of Brotherly Love, saying its really quite beautiful here.

Notwithstanding its beauty, even more biotech growth lies ahead in Philadelphias future. As Mingozzi sees it, This is the hope: Philadelphia will continue to attract and grow the community of biotechnology experts and become one of the most important hubs for gene and cell therapy in the world.

Spark ranks among the top employers in Science Careers 2020 Top Employer survey. Read more

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Citing pandemic, Sarepta defers much-anticipated DMD gene therapy PhIII, will head to regulators after 10-person study – Endpoints News

November 7th, 2020 5:53 am

Roger Perlmutter has a few more moves to make before he exits the top job in Merck R&D.

The pharma giant is buying VelosBio for $2.75 billion in cash, grabbing a promising ROR1 antibody drug conjugate that is now in Phase I and Phase II studies for hematologic malignancies and solid tumors.

Perlmutter, who will leave at the end of the year after building Keytruda into a monster drug franchise, clearly likes the data hes seen from the biotech. And the oncology group sees plenty of opportunities for the rest of the pipeline at VelosBio, which raised a crossover round of $137 million just a few months ago in an apparent move toward an IPO.

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Citing pandemic, Sarepta defers much-anticipated DMD gene therapy PhIII, will head to regulators after 10-person study - Endpoints News

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Ocugen Provides Business Update and Third Quarter 2020 Financial ResultsFirst Gene Therapy Candidate OCU400 On Track to Enter the Clinic in 2021 -…

November 7th, 2020 5:53 am

MALVERN, Pa., Nov. 06, 2020 (GLOBE NEWSWIRE) --Ocugen, Inc.. (NASDAQ: OCGN), a biopharmaceutical company focused on discovering, developing and commercializing transformative therapies to cure blindness diseases, today reported third quarter 2020 financial results along with a general business update.

I am proud of the advancements we have made this quarter in developing our modifier gene therapy and novel biologic product candidates. We remain on-track to achieve multiple near and mid-term milestones with a plan to initiate four Phase 1/2a trials during 2021 and 2022. Additionally, I am pleased that we have raised approximately $28million of gross proceeds in 2020, which have extended our cash runway for continued development of our product candidates, said Dr. Shankar Musunuri, Chairman, Chief Executive Officer and Co-Founder of Ocugen.

Business Highlights:

Third Quarter 2020 Financial Results:

About Ocugen, Inc.

Ocugen, Inc. is a biopharmaceutical company focused on discovering, developing, and commercializing transformative therapies to cure blindness diseases. Our breakthrough modifier gene therapy platform has the potential to treat multiple retinal diseases with one drug one to many and our novel biologic product candidate aims to offer better therapy to patients with underserved diseases such as wet age-related macular degeneration, diabetic macular edema, and diabetic retinopathy. For more information, please visit http://www.ocugen.com.

Cautionary Note on Forward-Looking Statements

This press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995, which are subject to risks and uncertainties. We may, in some cases, use terms such as predicts, believes, potential, proposed, continue, estimates, anticipates, expects, plans, intends, may, could, might, will, should or other words that convey uncertainty of future events or outcomes to identify these forward-looking statements. Such statements are subject to numerous important factors, risks and uncertainties that may cause actual events or results to differ materially from our current expectations. These and other risks and uncertainties are more fully described in our periodic filings with the Securities and Exchange Commission (the SEC), including the risk factors described in the section entitled Risk Factors in the quarterly and annual reports that we file with the SEC. Any forward-looking statements that we make in this press release speak only as of the date of this press release. Except as required by law, we assume no obligation to update forward-looking statements contained in this press release whether as a result of new information, future events or otherwise, after the date of this press release.

Corporate Contact:Ocugen, Inc.Sanjay SubramanianChief Financial OfficerIR@Ocugen.com

Media Contact:LaVoieHealthScienceKatie Gallagherkgallagher@lavoiehealthscience.com+1 617-792-3937

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OCUGEN, INC.CONSOLIDATED BALANCE SHEETS(UNAUDITED)

OCUGEN, INC.CONSOLIDATED STATEMENTS OF OPERATIONS(UNAUDITED)

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Roadmap to Market for Cell and Gene Therapies, Upcoming Webinar Hosted by Xtalks – PR Web

November 7th, 2020 5:53 am

Is your team confident in handling the complicated logistics that come with cell and gene trials?

TORONTO (PRWEB) November 06, 2020

Nothing is standard about the study design, study conduct or the regulatory process in cell and gene therapy trials. Every cell and gene therapy is different due to the specific characteristics of each product, with a complicated regulatory approval process and unique therapeutic challenges.

Do you have confidence in your trials endpoints? Are you pursuing an accelerated pathway or special designation? Will you need to plan for a centralized site model or remote monitoring? Is your team confident in handling the complicated logistics that come with cell and gene trials?

In this webinar, participants will learn an end-to-end approach to bringing a cell and gene therapy to market. You will receive advice from experts responsible for supporting over 100 advanced cell and gene therapy programs. They will share each step of this process covering the planning, execution, submission and post-marketing for trials in the US and EU. The information provided will help participants determine their next step in the development of their cell and gene therapy product.

Join Ewan Campbell, Advanced Therapy & Biotech Director, Veristat; Kevin Hennegan, Senior Regulatory Strategist, Veristat; and Rachel Smith, Project Director, Veristat in a live webinar on Friday, November 20, 2020 at 11am EST (4pm GMT/UK).

For more information, or to register for this event, visit Roadmap to Market for Cell and Gene Therapies.

ABOUT XTALKS

Xtalks, powered by Honeycomb Worldwide Inc., is a leading provider of educational webinars to the global life science, food and medical device community. Every year, thousands of industry practitioners (from life science, food and medical device companies, private & academic research institutions, healthcare centers, etc.) turn to Xtalks for access to quality content. Xtalks helps Life Science professionals stay current with industry developments, trends and regulations. Xtalks webinars also provide perspectives on key issues from top industry thought leaders and service providers.

To learn more about Xtalks visit http://xtalks.comFor information about hosting a webinar visit http://xtalks.com/why-host-a-webinar/

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Accelerate Cell and Gene Therapy Development and Increase Manufacturing Capacity with Higher Titer LV and AAV Transfection Platforms – BioProcess…

November 7th, 2020 5:52 am

This webcast features:Leisha Kopp, Applications Scientist, Mirus Bio

Cell and gene therapies show unparalleled promise to improve the human condition by eradicating cancer and rectifying genetic disorders. However, low viral titers and capacity constraints in viral vector manufacturing processes can dramatically hinder the progress of these transformative therapies.

TheTransIT-VirusGEN Transfection Reagent from Mirus Bio offers a simplified, cost-effective workflow for recombinant lentivirus (LV) and adenoassociated virus (AAV) generation.TransIT-VirusGEN Transfection Reagent is also effective in both adherent and suspension HEK 293derived cell types, making it the superior reagent choice for most large-scale production platforms. In addition, Mirus developed LV and AAV enhancers to increase functional virus titers two to three fold over previously optimized conditions and offer up to 10-fold titer improvements over polyethylenimine (PEI)-based formulations.

Just fill out the form below to watch the recorded webcast now.

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Homology Medicines Announces Upcoming Oral Presentation on pheNIX Gene Therapy Clinical Trial for Adults with PKU – GlobeNewswire

November 7th, 2020 5:52 am

Homology Webcast / Conference Call Scheduled for Friday, November 6 at 4:30 p.m. ET

BEDFORD, Mass., Nov. 05, 2020 (GLOBE NEWSWIRE) -- Homology Medicines, Inc. (Nasdaq: FIXX), a genetic medicines company, announced today the upcoming oral presentation of data from the dose-escalation portion of the Companys ongoing Phase 1/2 pheNIX gene therapy clinical trial with HMI-102 for adults with phenylketonuria (PKU), the worlds first PKU gene therapy clinical trial. The data will be presented by pheNIX principal investigator Olaf Bodamer, M.D., Ph.D., FACMG, FAAP, Park Gerald Chair in Genetics & Genomics and Associate Chief of Genetics & Genomics at Boston Childrens Hospital, a premier center for metabolic disorders and the first site to enroll a patient in the pheNIX trial. The pheNIX trial results will be featured at the virtual New England Consortium of Metabolic Programs (NECMP) annual meeting, which is focused on new research in metabolic disorders, including PKU, on Friday, November 6. NECMP includes metabolic clinics, healthcare providers, patient organizations and others dedicated to increasing knowledge of metabolic disorders and improving delivery of healthcare to patients.

We are pleased that additional data from our pheNIX trial, the first-ever gene therapy trial for PKU, will be shared for the first time by a respected leader in the field of metabolic disorders and directly with the PKU community as part of a featured, peer-reviewed scientific session, stated Gabe Cohn, M.D., Chief Medical Officer of Homology Medicines. The oral presentation by Dr. Bodamer will include data from three dose cohorts in the dose-escalation phase of our pheNIX trial, the results of which are informing the upcoming expansion phase of our study.

Webcast/Conference Call The NECMP annual meeting is for members of the Consortium. Homology will host a conference call and webcast following the meeting on Friday, November 6 at 4:30 p.m. ET. The webcast will be accessible on Homologys website in the Investors section, and the webcast replay will be available on the website for 90 days following the presentation. To access using the conference call line, dial (866) 244-8091 (U.S./Canada toll-free) or (602) 563-8623, with Conference ID 7394503.

About HMI-102HMI-102 is an investigational gene therapy in clinical development for the treatment of phenylketonuria (PKU) in adults. HMI-102 is designed to encode the PAH gene, which is mutated in people with PKU, delivered via the liver-tropic AAVHSC15 vector. Homology has received Fast Track Designation and orphan drug designation for HMI-102 from the U.S. Food and Drug Administration (FDA), and orphan drug designation from the European Medicines Agency (EMA).

About Phenylketonuria (PKU)PKU is a rare inborn error of metabolism caused by a mutation in thePAHgene. PKU results in a loss of function of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of phenylalanine (Phe), an amino acid obtained exclusively from the diet. If left untreated, toxic levels of Phe can accumulate in the blood and result in progressive and severe neurological impairment. Currently, there are no treatment options for PKU that target the underlying genetic cause of the disease. According to the National PKU Alliance, PKU affects nearly 16,500 people in the U.S. with approximately 350 newborns diagnosed each year. The worldwide prevalence of PKU is estimated to be 50,000 people.

About Homology Medicines, Inc. Homology Medicines, Inc. is a genetic medicines company dedicated to transforming the lives of patients suffering from rare genetic diseases with significant unmet medical needs by curing the underlying cause of the disease. Homologys proprietary platform is designed to utilize its human hematopoietic stem cell-derived adeno-associated virus vectors (AAVHSCs) to precisely and efficiently deliver genetic medicinesin vivoeither through a gene therapy or nuclease-free gene editing modality across a broad range of genetic disorders. Homology has a management team with a successful track record of discovering, developing and commercializing therapeutics with a particular focus on rare diseases, and intellectual property covering its suite of 15 AAVHSCs. Homology believes that its compelling preclinical data, scientific expertise, product development strategy, manufacturing capabilities and intellectual property position it as a leader in the development of genetic medicines. For more information, please visitwww.homologymedicines.com.

Forward-Looking Statements This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding our expectations surrounding the potential, safety, efficacy, and regulatory and clinical progress of our product candidates; plans and timing for the release of clinical data from the Phase 1/2 pheNIX trial; our position as a leader in the development of genetic medicines; and our participation in upcoming presentations and conferences. These statements are neither promises nor guarantees, but involve known and unknown risks, uncertainties and other important factors that may cause our actual results, performance or achievements to be materially different from any future results, performance or achievements expressed or implied by the forward-looking statements, including, but not limited to, the following: the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies and clinical trials, and on general economic conditions; we have and expect to continue to incur significant losses; our need for additional funding, which may not be available; failure to identify additional product candidates and develop or commercialize marketable products; the early stage of our development efforts; potential unforeseen events during clinical trials could cause delays or other adverse consequences; risks relating to the capabilities of our manufacturing facility; risks relating to the regulatory approval process; interim, topline and preliminary data may change as more patient data become available, and are subject to audit and verification procedures that could result in material changes in the final data; our product candidates may cause serious adverse side effects; inability to maintain our collaborations, or the failure of these collaborations; our reliance on third parties; failure to obtain U.S. or international marketing approval; ongoing regulatory obligations; effects of significant competition; unfavorable pricing regulations, third-party reimbursement practices or healthcare reform initiatives; product liability lawsuits; failure to attract, retain and motivate qualified personnel; the possibility of system failures or security breaches; risks relating to intellectual property and significant costs as a result of operating as a public company. These and other important factors discussed under the caption Risk Factors in our Quarterly Report on Form 10-Q for the quarterly period endedJune 30, 2020and our other filings with theSECcould cause actual results to differ materially from those indicated by the forward-looking statements made in this press release. Any such forward-looking statements represent managements estimates as of the date of this press release. While we may elect to update such forward-looking statements at some point in the future, we disclaim any obligation to do so, even if subsequent events cause our views to change.

Company ContactsTheresa McNeely Chief Communications Officer and Patient Advocate tmcneely@homologymedicines.com781-301-7277

Media Contact: Cara Mayfield Senior Director, Patient Advocacy and Corporate Communications cmayfield@homologymedicines.com781-691-3510

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CRISPR, Vertex show CRISPR/Cas9 gene-editing therapy works in more patients – FierceBiotech

November 7th, 2020 5:52 am

CRISPR Therapeutics and Vertex have presented updated data on their CRISPR/Cas9 gene-editing therapy in sickle cell disease and beta thalassemia, showing patients continue to benefit from the drug. Yet, hemoglobin levels fell in two of the seven patients in the latest update, raising early questions about the durability of CTX001.

One year ago, CRISPR and Vertex linked CTX001 to improvements in two hemoglobinopathy patients. The results were a milestone for gene editing, but CTX001 needs to build on the early success if it is to emerge as a viable rival to bluebird bios LentiGlobin gene therapy, which is now set to be submitted for FDA approval in late 2022.

The LentiGlobin delays create an opportunity for CTX001. The question is whether CRISPR and Vertex can take it. Ahead of the American Society of Hematology's (ASH's) annual meeting, the partners shared new data that shed light on the potential prospects of CTX001.

Fetal hemoglobin levels rose in all seven patients after administration of CTX001 and have remained elevated for up to 15 months of follow-up. The five beta thalassemia patients last needed packed red blood cells in the first month or two after receiving CTX001, having previously more than 10 units a year, and neither of the sickle cell patients have suffered vaso-occlusive crises since being treated.

There are potential points of concern in the data, though, particularly given the likelihood of CTX001 facing competition. Hemoglobin fell from 12.5 to 11.6 in one beta thalassemia patient between the fifth and sixth months. The drop followed a decrease from 12.9 to 12.5 between the fourth and fifth months.

Investigators also tracked a decline in hemoglobin levels in one of the sickle cell patients. Levels fell from 11.8 to 10.3 between month nine and month 12.

The declines happened in two of the three patients with the longest follow-up, raising the question of whether similar trends will play out in other subjects in the coming months. Those concerns are countered by data on the first beta thalassemia patient, whose hemoglobin level is higher than ever 15 months after treatment with CTX001.

Safety is another concern. In an update earlier this year, CRISPR and Vertex revealed they had seen seven serious adverse events across three patients, suggesting bluebirds LentiGlobin may have the edge in terms of safety. The ASH update discussed a new patient who suffered four serious adverse events that may be related to CTX001.

Such details could matter, given CTX001 is still likely to cede a head start to LentiGlobin. Yet, CRISPR sees CTX001 as a best-in-class treatment and, with bluebird stumbling, thinks the drug is well placed to capture a sizable slice of the market.

CRSP has mentioned they are working on bridging the development timeline gap (~1-2 yrs now) w/ BLUE, and they expect BLUE's earlier launch and investment in developing+educating the mkt could benefit CRSP w/o loss of a bolus of pts, analysts at Jefferies wrote in a note to investors.

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CRISPR, Vertex show CRISPR/Cas9 gene-editing therapy works in more patients - FierceBiotech

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Researchers Explore Respiratory Impact of Novel Therapies in SMA – AJMC.com Managed Markets Network

November 7th, 2020 5:52 am

Short-term pulmonary outcomes of these medications are published and longitudinal monitoring is active, they wrote. Most studies have demonstrated favorable responses in overall muscle strength compared to natural history, but the pulmonary outcomes vary.

Studies included in the review revolved around 3 recently approved treatments:

Nusinersen

Although nusinersen has demonstrated efficacy on respiratory muscle function, the effect varies by SMA subtype, according to the researchers. They cited a study that found the treatment had little impact on patients with SMA1 A and B and had better response in patients with SMA1 C when it came to ventilatory and thoracoabdominal patterns.

Onasemnogene abeparvovec-xioi

In the pivotal phase 1 START trial for the gene therapy, survival data was striking, with an event-free survival of 100% without need for permanent ventilation at 20 months compared with the 8% event-free survival in natural history studies. Throughout the study, 83% (n = 10) of patients required at least 1 hospitalization for respiratory illness with increased length of noninvasive ventilation support, although no hospitalizations surpassed 8 days. Patients in the study had 1.4 respiratory-related hospitalizations per year, with a mean length of stay of 6.7 days.

According to the researchers, the study data suggest that overall pulmonary morbidity and consequent healthcare utilization may have decreased, but some patients may still require escalation of respiratory support during illnesses.

Other data, coming from the phase 3 STRIVE trial, the ongoing SPR1NT study, and real-world experience with the treatment in 3 tertiary centers in Ohio, have made the case for improved respiratory and nutritional outcomes with the gene therapy as researchers await long-term data.

Risdiplam

In the multicenter FIREFISH trial, 90% of the 21 patients were alive without permanent ventilation and rarely required hospitalized after 12 months of treatment. After 23 months, 81% were alive without permanent ventilation. All patients were able to swallow safely and most (95%) were able to be fed orally or with supplemental gastrostomy feeds.

Promising data have also emerged from the SUNFISH and JEWELFISH trials, both of which included patients with varying subtypes of SMA. The researchers also highlighted the RAINBOWFISH study, which is actively recruiting patients with SMA type 1. According to the researchers, the results of the study could be transforming to those with a neonatal diagnosis of SMA type 1.

Looking forward

Looking toward the future, the researchers of the review noted that monitoring of short- and long-term outcomes is still critical, as its still too early to determine sustained improvement in pulmonary outcomes. They add that currently available data come from a limited number of patients and emphasize the need for more multicenter trials to better validate the impact of novel treatments.

Reference

Paul G, Gushue C, Kotha K, Shell R. The respiratory impact of novel therapies for spinal muscular atrophy. Pediatr Pulmonol. Published online October 24, 2020. doi:10.1002/ppul.25135

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UH announces participation in clinical trial testing antibodies to treat COVID-19 in adults – News 5 Cleveland

November 7th, 2020 5:51 am

CLEVELAND University Hospitals announced Thursday its participation in a novel clinical trial testing multiple therapeutics to treat COVID-19 in adults who dont require hospitalization.

University Hospitals said it is adding the ACTIV-2 Trial to its arsenal of investigational treatments. ACTIV-2 is a randomized, blinded, controlled study that tests a variety of new agents against placebo.

This study aims to identify a treatment that can prevent people with COVID-19 from developing advanced disease that requires hospitalization, said Grace McComsey, MD, Vice President of Research and Associate Chief Scientific Officer at UH in a news release. UH is at the forefront of testing experimental treatments for COVID-19, including remdesivir, stem cell therapy and convalescent plasma. Patients suffering from complications of COVID-19 have hope at UH thanks to these options.

This study is one of the few outpatient clinical trials in the Greater Cleveland Area.

There is significant concern nationally as to how hospitals will handle the burden of both influenza and COVID-19 this winter, said Mukesh K. Jain, MD, Chief Academic Officer at UH. Studies focused on helping people recover from COVID-19 at home, without needing hospitalization, are vitally important and we hope our engagement in the ACTIV-2 trial will help us achieve this goal for our community.

The first investigational agent to be evaluated by ACTIV-2 is an experimental monoclonal antibody treatment called LY-CoV555. This antibody was first identified by a blood sample taken from a patient in the U.S. who recovered from COVID-19.

Ones body produces antibodies to fight infections. Monoclonal antibodies are produced in a lab. LY-CoV555 is given as an infusion into a vein in the arm.

To qualify for the study, participants must have tested positive for SARS-CoV-2 infection in the outpatient setting within seven days and started experiencing symptoms within 10 days of enrolling into a study.

For information about enrolling in the trial at University Hospitals:

Call: 1-833-78-TRIALEmail: ClinicalResearch@UHhospitals.orgVisit: uhhospitals.org/researchvolunteer

See complete coverage on our Coronavirus Continuing Coverage page.

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Cord Blood Banking Market Technological Innovations And Future Opportunities 202 – Fractovia News

November 7th, 2020 5:51 am

Global cord blood banking market has emerged as one of the most crucial niche verticals of the healthcare industry, driven by the product demand in treatment of many life-threatening diseases including leukemia, thalassemia, and different kinds of cancers. As per The American Academy of Pediatrics, more than 30,000 stem cell transplants had been performed using cord blood by 2013, essentially demonstrating the criticality of stem cell cord blood banking institutions in treating fatal disorders with fewer complications and enhanced medical outcomes.

Request for a sample copy of this report @ https://www.decresearch.com/request-sample/detail/3268

Apart from affirmative policy statements and legislative provisions, the public cord blood banking market is gaining traction due to the fact that some nations such as Italy and France do not permit the establishment of private cord blood banks. Furthermore, an increasing number of funding programs by regional governments to overhaul stem cell cord blood banking research is augmenting the public cord blood banking industry. In fact, as per a research report by Global Market Insights, Inc., the revenue share of public cord blood banking industry is slated to exceed USD 3,931 million by 2025.

One of the main factors supporting the growth potential of public cord blood banking industry is the establishment of legislative provisions that ensure discoveries in the field of regenerative medicine and cellular therapy. In this regard, the Stem Cell Therapeutic and Research Act was established in the U.S. Senate and House Representatives during the year 2015.

India cord blood banking market has registered commendable gains due to the efforts undertaken by various NGOs spread across the country to offer funding for a public cord blood banks, in order to make stem cells available to the Indian population at an economical rate.

Some of the prominent companies in the industry globally include Cordlife, Global Cord Blood Corporation, Singapore Cord Blood Bank, and Jeevan Stem Cell Foundation, among many others.

A considerable increase in the number of patients diagnosed with life-threatening genetic disorders is a major factor supporting enhancements in cord blood banking industry. According to the World Health Organization, approximately 1 in 2000 newborn babies in the European Union are affected by cystic fibrosis. With the increasing prevalence of genetic disorders, the need for cord blood banking is likely to witness enormous growth in the future.

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Partial Chapter of the Table of Content

Chapter 4. Cord Blood Banking Market, By Type of Bank

4.1. Key segment trends

4.2. Public

4.2.1. Market size, by region, 2014 2025 (USD Million)

4.3. Private

4.3.1. Market size, by region, 2014 2025 (USD Million)

Chapter 5. Cord Blood Banking Market, By Services

5.1. Key segment trends

5.2. Processing

5.2.1. Market size, by region, 2014 2025 (USD Million)

5.3. Storage

5.3.1. Market size, by region, 2014 2025 (USD Million)

5.4. Others

5.4.1. Market size, by region, 2014 2025 (USD Million)

Chapter 6. Cord Blood Banking Market, By Application

6.1. Key segment trends

6.2. Cancer

6.2.1. Market size, by region, 2014 2025 (USD Million)

6.3. Blood Disorders

6.3.1. Market size, by region, 2014 2025 (USD Million)

6.4. Immuno-deficiency disorders

6.4.1. Market size, by region, 2014 2025 (USD Million)

6.5. Metabolic disorders

6.5.1. Market size, by region, 2014 2025 (USD Million)

6.6. Bone marrow failure syndrome

Browse full table of contents (TOC) of this report @ https://www.decresearch.com/toc/detail/cord-blood-banking-market

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Ashley Cain fights back tears as he reveals 12-week-old daughter will need bone marrow transplant in – The Sun

November 7th, 2020 5:51 am

ASHLEY Cain fought back tears as he revealed that his 12-week-old daughter Azaylia will need a bone marrow transplant regardless of how well her chemotherapy goes.

The 30-year-old star told fans that his baby girl had been diagnosed with Leukaemia last month - just eight weeks after he and girlfriend Safiyya Vorajee welcomed her into the world.

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The devoted dad has been keeping fans updated on Azaylia's battle on Instagram, and couldn't hide his upset as he bravely detailed their latest "crushing blow".

Speaking from his daughter's hospital room while she slept, Ashley said: "I was having a great morning with my little one then the doctors came in and said that no matter how well she does with these blocks of chemotherapy, she's on the high risk list so she'll 100% need a bone marrow transplant.

"And due to her ethnicity, Caribbean, Burmese, Indian, English, it's very difficult to find a match for a transplant.

"Even if she does find a transplant, she's so small and because her case is so bad it's a very, very long, gruelling, and intense procedure and we could be here for a very, very long time - and that's if she manages to fight it and withstand it."

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With his eyes filling with tears, Ashley continued: "It's sad, it feels like we are back to the start - it's broken my heart again.

"It's difficult, it's so difficult. As long as she has a fighting chance we are going to fight and this little warrior, she can do it."

He added: "Please keep us in your thoughts and prayers and please keep sending us positive energy because we are feeding off it."

The star shared some more detail in the video's caption, writing: "Her case is very rare and aggressive and made even rarer by her age.

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"The bone marrow transplant it is a very long and gruelling process of intense chemotherapy, stem cell treatments, transfusions etc and there are many high risk complications.

"I cant lie its a crushing blow as shes in the high risk category and this process is incredibly enduring on her little body. But as always were keeping things positive and as long as shes got a fighting chance WE WILL FIGHT!"

On his Instagram Story, Ashley shared heartbreaking videos of his little girl giggling in her bed, while explaining that she is starting to lose her hair due to gruelling chemotherapy.

The Ex On The Beach star previously called his baby his "little soldier", telling fans: "As long as there's a glimmer of hope, it doesn't matter how much or how little, we will hold on to that and use that to fuel us to the stars and back."

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And sharing the devastating news of his newborn's diagnosis in October, Ashley had written: "Yesterday I had to go through something no parent in the world should have to go through.

"The single most upsetting, terrifying and heartbreaking experience I have ever been through. I found out my beautiful daughter Azaylia Diamond Cain got diagnosed with a very rare and aggressive form of leukaemia, which has come with many complications.

"Everybody who wishes to, please say a prayer for my beautiful brave little girl Azaylia who is currently fighting a battle for her life!

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BEAR NECESSITIESLiam Payne says he was forced to take time apart from Bear during lockdown

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"Mummy and Daddy love you princess LETS GO CHAMP You CAN and you WILL beat this! "

Just one month earlier, Ashley had gushed over how much he loves fatherhood as he thanked his little girl for all that she'd brought him in such a short space of time.

He shares his daughter with long-term girlfriend Safiyya, and the pair tend to keep their relationship out of the limelight.

She previously thanked fans for their support after news of their family's pain broke, as she too vowed that they will all beat the disease together.

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Ashley Cain fights back tears as he reveals 12-week-old daughter will need bone marrow transplant in - The Sun

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‘We’re truly blood brothers’: Stanford coach David Shaw and his recent fight to save his brother, Eric – KGO-TV

November 7th, 2020 5:51 am

David Shaw walks into the hospital room and takes a seat next to the bed. He does this nearly every day, right around lunchtime.

He looks at his younger brother, Eric, tubes snaking across his arms, machines beeping and whirring. Eric does not look like Eric anymore, his skin darkened, scars deepened, features altered. They both know this but never mention it.

Eric is dying, a rare, aggressive skin cancer rampaging through his body with such ferocity that his doctors are nearly out of options. Radiation failed. Chemotherapy failed. Two bone marrow transplants failed.

As Stanford's head football coach, David Shaw is relied on to always know what to say, how to say it and when to say it; but he cannot find the words now that he and his brother are staring down what seems to be an inevitable fate.

"What do you say, where you think you've pulled at the last thread and there are no more threads?" David said. "All I could tell him was that I loved him and that I was there for him. The rest of it was really just ... I thought it was only a matter of time before he passed away."

Two years later, what happened between David and Eric remains real, present and raw -- changing their entire relationship, redefining what it means to be a brother. The words are still difficult to say, so they tip-toe around the crushing physical and mental toll Eric's cancer took on them.

David and Eric are sure to think about it all this weekend, when Stanford opens its season at Oregon on Saturday. Because the last time the Cardinal visited Eugene, neither one knew whether Eric would live or die.

After Stanford came from behind to win that game 38-31 in overtime, David delivered a message at the end of his postgame television interview, looking at the camera and saying, "To my brotherEric: I love you." He tapped the lime green pin on his black Stanford sweatshirt before he left the screen.

When Shaw became head coach at Stanford in 2011, it was the culmination of a family journey. His father was a longtime coach there; David played receiver for the Cardinal and eventually returned as an assistant under Jim Harbaugh. The entire Shaw family -- parents Willie and Gay, along with David, Eric and their sister, Tawnya -- all call the Bay Area home.

To this day, David says the day he was introduced as coach was "one of the better days in all our lives."

Yet something started to happen to Eric that no one could quite figure out. That same year, Eric found strange looking spots on his torso. His wife, Crystal, noticed the first one under his arm. Maybe it was eczema, they thought. Then the spots started to spread. He went to the doctor. They prescribed an ointment, but the spots kept popping up, until they covered his entire body. Eventually, tumors started to grow. It looked as if someone had pushed marbles under his skin. Doctors remained confounded. Eric itched uncontrollably, insatiably. His skin itched so badly, it became difficult to put on clothes, shower, sleep and go to work. He eventually needed sleep medication so he could get uninterrupted rest.

Even then, he itched subconsciously, only realizing what happened when he woke up in the morning to find his arms and sheets covered in blood. Some nights, he tried to sleep on his forearms so his body wouldn't touch the sheets, because his skin grew too sensitive to any touch. At one point, he had more than 30 open wounds on his body.

"It's something that's so pervasive and so destructive that a lot of people have mental problems -- you can't do anything without extreme pain," Eric said. "You bleed a lot through the tumors, through the lesions, through the scratching. A lot of people don't survive, really, because of the mental stress that comes with it."

Doctors had a hard time diagnosing his disease because it is often confused with psoriasis, eczema or other skin conditions. Eventually, they determined he had a rare form of skin cancer called mycosis fungoides, a type of T-cell lymphoma that affects one in 6 million people in the United States and Europe. At the time, Eric Shaw was 38.

In 2013, he and Crystal pushed for a referral to Stanford Cancer Center, which has leading experts in the disease. Mycosis fungoides is so rare, it accounts for only 4% of all non-Hodgkin lymphoma cases; among those who suffer from it, only 20% have the type of itching Eric experienced. Rarer still is to find it in people under the age of 40, and African American men often end up with the worst prognosis. All the odds were firmly against him.

"When you first hear skin cancer, your mind doesn't go too far," David said. "So initially I was like, 'There are creams and other minor surgeries. I think it'll be OK.' And then Eric said, 'No, this is not the typical skin cancer. This is inside my body. This is inside the layers of my skin, and it's not one spot. It's everywhere.'

"I didn't really get it for weeks after that because, rectifying something that I didn't think was so serious to [then thinking] ... 'Oh my gosh. So this is really cancer. This is really scary now.' It took a long time for that to sink in."

David turned it over in his mind. He was the big brother, the protector, the one who always made sure Eric would be OK. They were supposed to raise their kids together, grow old together, and reminisce about the randomness of a life spent together.

He kept coming back to one thought: You're not supposed to lose your little brother.

David and Eric Shaw grew particularly close as children as they moved from place to place when their father, Willie, took new coaching jobs. Tawnya, their older sister, fit in anywhere socially. But David and Eric, who is two years younger, stuck together.

"Like a pair," David said.

They loved riding their bikes and, when they moved to Arizona, they took advantage of the wide-open spaces in the new development where they lived. They rode for miles and miles, setting up their own ramps and doing tricks and wheelies, visiting friends along the way before returning home after dark. They played sports, too, and though David loved football as much as their dad, the basketball court is where the brothers had their epic battles.

"I was always kind of a little bit stronger and I'll never forget the last time we played one-on-one basketball," David said. "He just got better than me, and he won, and once I got over the anger and disappointment, I was proud because my younger brother had grown and was gaining confidence."

Said Eric: "I wanted nothing more than to beat him, and he wanted nothing more than to keep beating me. But, during those times, it was just us, it was me and him. He was my best friend."

David went on to play at Stanford and eventually got into coaching, against his mother's best wishes. Eric did not pursue a career in athletics. He went to San Diego State and got into a career in marketing at a financial services company, where his gregarious nature, big smile and easy laugh made him a perfect fit. Though their personalities are different -- David is stoic and introspective, Eric makes anyone feel as if they have been friends forever -- they are grounded in the same values they learned at a young age: family and faith above everything else.

Those principles only grew stronger after they found themselves in the Bay Area as adults.

After David was hired by Stanford, the entire Shaw family made it clear it would always be around to support him. Family members all have a standing invitation to come for dinner on Tuesdays. And they always attend home football games, waving and hugging David during the team's pregame walk, cheering from the stands, and then waiting for some time together once the game ends.

Even as Eric grew sick, he made it a point to go cheer for his big brother. "It's not just the football game. Our family comes together," he said. "We celebrate, we come to watch the game and cheer the team on and support David. And then afterwards, win or lose, we all wait for him to come out. It's a family day. It's been wonderful to share that experience with David."

Stanford eventually drew them even closer, and it had nothing to do with football.

Eric did not understand the gravity of his situation until his first meeting in 2013 with the doctors at Stanford Cancer Center. They put it bluntly: He had such an aggressive form of the disease that he needed immediate treatment. They would start with total skin radiation, preparing Eric to lose his hair, eyebrows, eyelashes, fingernails and toenails.

If that did not work, they would try chemotherapy next.

"All these thoughts are running through your mind," Crystal said. "'Is he going to make it? Is it going to work? What's going to happen?' At the time, our youngest daughter was 3 months old, so it was pretty overwhelming. We were just putting our lives together and then boom: you're in the middle of this cancer war."

The next week, Eric took a leave of absence from work and began four-times-a-week trips from their home east of Palo Alto, California, to Stanford Hospital, often driving as many as three hours one way in traffic. When he arrived, he went into a box and his whole body was exposed to the radiation light for about an hour. Then, he would make the drive back home to see Crystal and their four kids -- Caleb Michael, Jared Spann-Shaw, Madison Shaw and Olivia Shaw.

The radiation charred his skin. He lost weight. When he looked in the mirror, Eric no longer recognized the man looking back at him.

"Nothing prepares you for something like this," he said. "Knowing that other people were looking at me and knowing that something was very wrong, that was a daily grind to get myself up out of bed and get ready for the day, knowing that that was going to be my life."

He did this for three straight months, all to keep the disease from growing to a point where it would kill him. It worked for a short time, but the disease came back more aggressively six months later. Doctors moved on to chemotherapy treatments, some of them experimental, but also began discussing the last-resort option: a bone marrow transplant.

David and Tawnya immediately volunteered to become donors, and underwent testing. In most cases, siblings are the best chance at a donor match. Unfortunately, in their case, neither was close. On a 10-point match scale, Tawnya registered a 3, David a 5. Neither qualified to donate.

"I wanted to jump to the front of the line and say, 'Whatever I have to do, whatever you have to take out of me, however you have to do it, just do it,'" David said. "For them to come back and say that you're not a strong enough match was disheartening. It hurt me. The fact that we had to put our trust and faith in people that we didn't know, and that we're going to have to go out to registries and try to find someone who was a better match than I was, that uncertainty, and that doubt, it's hard to keep it at bay at that point. It starts to creep in."

Doctors eventually found two donors whom they believed could work, but they were not perfect matches. In early 2018, Eric and his family moved into a two-bedroom apartment near Stanford Hospital to prepare for the transplant. For three months, he went through radiation, then chemotherapy to prepare his body to accept the donor cells.

He underwent the transplant in April, feeling confident and inspired it would work. After a month, doctors did an initial check to see how many of the donor cells had survived the transplant.

None survived.

"It was like I never even had the transplant," Eric said. "That was so devastating. We just knew it was going to work. I mean, we're people of faith, and we knew everybody was praying for us, and that we were praying that this six-year journey was going to finally be over. And it wasn't over. It was crushing for them to say, 'It didn't work. We're going to have to try again.'"

The second attempt happened in September. Crystal bought lime green pins for the family to wear for lymphoma awareness. Without telling Eric or Crystal, David decided he would wear his on his shirt for the 2018 football season. In addition to that, he had lime green and yellow ribbons placed on the back of Stanford helmets as a way to show support for both cancer patients and cancer survivors.

He told his team that his brother was fighting cancer, and briefly mentioned the helmet ribbons publicly during an early-season news conference. But beyond that, David kept the severity of what was happening to his brother to himself, masking his growing nervousness, fear and anxiety as the clock ticked toward the next transplant. He had a hard time processing what was happening. He did not want to put that at the feet of his players, or his staff.

The doctors used the same donor cells that failed the first time for the second transplant on Sept. 11, 2018, because that was the only option available. But this time, doctors used even stronger drugs to prepare Eric's body to receive the donor cells -- hoping that would do enough to stop his immune system from attacking them.

When Stanford played Oregon on Sept. 22, no one in the Shaw family knew whether the transplant had worked. But the situation was more dire than the first transplant. The stronger chemotherapy caused major complications, and Eric became severely ill.

David coached the game with this in the back of his mind. Stanford rallied from a 21-7 deficit to win an overtime thriller, moving to 4-0 on the season, with a top-10 matchup against Notre Dame the following week. Back in Palo Alto, Eric watched the entire game alone in an apartment he rented near the hospital, the comeback buoying his spirits.

He had no idea his brother would speak to him through the television until he heard the words, "To my brother Eric ..."

"In that moment, I didn't feel any sickness at all," Eric said. "I can't really describe what I felt, just how proud I am of him and how awesome it made me feel that he would do that for me."

Said David: "If that transplant didn't work, I didn't know how many more games he was going to be able to see. That was an opportunity for me on national TV to speak to him, to say to my brother that against the odds, we came back and throughout the entire game, I was thinking about him."

Eric soon returned to Stanford Hospital. The chemotherapy destroyed his blood system, so he needed daily blood transfusions to stay alive. It came as no surprise when doctors told him the second transplant had failed. They had no plan now, no other donor options. David came by to visit as often as he could, but he had a hard time finding the words to say to his dying brother.

"I thought about Crystal. I thought about their kids," Shaw said. "I thought about, 'How can we help?' And then I kept going, 'We just can't get there. There has to be something else.' And we all prayed and we all comforted each other and trusted the doctors and prayed for the doctors. And just kept saying, 'Just tell us whatever options there are. Just tell us what to do and we'll do it.'"

During the day, Eric had his mother, Crystal, David, or David's wife, Kori, at his side, helping to keep his mind off what was happening to him. But in the evenings, when he was alone in his hospital room, he couldn't help but think about the dwindling medical options and his own death, slowly accepting what he believed would inevitably come.

Over seven years, everything the doctors tried had failed, and the disease always came back more aggressively. He felt exhausted in every possible way, desperate to feel better. He didn't want to die. All he wanted to do was get better, and see his kids again, hug his wife and go home. But that possibility seemed as far off as the stars.

"The doctors couldn't help us," Eric said. "They had lost all hope. There was nothing left, but we were in the deepest part of the valley, and there was nobody there but God. I said, 'You're going to take me off this Earth.' And he told me, 'Eric, you're not going to die.' That was the point at which my faith really took over, and I really had true peace."

His team of doctors huddled together again and came up with a plan many of their colleagues questioned, simply because they had never attempted it. In mid-October of 2018, they told Eric they wanted to try a third transplant.

Only this time, they wanted David to be the donor and they had only weeks to make it happen.

Eric thought, "Are they trying to kill me?"

When David was initially rejected, doctors had worked for 25 years to find a way to do half-match transplants but had virtually no success. By 2018, doctors explained that a different way to do the transplant had emerged, opening up the potential to try it with Eric. These transplants, called haploidentical transplants, typically use donor cells from a family member.

Dr. Wen-Kai Weng, Eric's bone marrow transplant physician, explained, "It was relatively new at this time. We decided to go ahead, because we knew if we didn't do it, the disease would really come back with a vengeance."

No one had ever done a third transplant with donor cells at Stanford.

"If he didn't go for this risk, he wouldn't be here," said Dr. Youn Kim, who treated Eric and heads Stanford's multidisciplinary Cutaneous Lymphoma Clinic/Program. "He wouldn't be living."

Doctors told Shaw there was a 15% chance he would not survive the transplant itself. If he did survive it, there was only about a 30% to 40% chance the donor cells would work. Compared to much steeper survival odds with no transplant at all, the decision -- filled with multiple layers of danger -- did not feel risky at all.

They had to try.

"They might have told us what the odds were, and I honestly just pushed it out of my brain," David said. "If this is the Hail Mary, hey, we're going to drop back and throw it as far as we can and send prayers along with it and hope that it works."

Without hesitation, David said to his brother, "Tell me what I need to do."

Stanford gathered in its team hotel early on Oct. 27 to begin final preparations before hosting Washington State later that day. David checked in for a 9 a.m. meeting and when it finished, he checked out of the hotel without saying a word. He walked toward the back exit, careful to make sure no one saw him, and snuck out the door to a waiting car.

Shaw sat in the passenger seat, headed toward campus and Stanford Hospital, praying all the while that what he was about to do would work.

He arrived at the hospital and was hooked up to an IV for the first dose of medication. This would not be the more traditional bone marrow transplant, where cells are extracted with a needle through the hips. Rather, the medication flowing through the IV would stimulate his body to overproduce the stem cells needed for the transplant, flooding his blood with them. The cells would then be extracted from his blood, and transplanted into Eric.

Doctors told him to expect to start feeling joint pain and tiredness within 24 hours. Those symptoms would grow only stronger over the coming days, when he came in for more medication. They told him he should stay off his feet, rest and remain hydrated.

That would be nice, David thought. But he had a game to coach. Only two people inside the program knew he had gone that morning: assistant athletic director for football operations Callie Dale, who drove him to the hospital, and defensive coordinator Lance Anderson.

"The way that I do my job, I work really hard not to make it about me," David said. "Although I wanted my team to know what my family was going through, college football is about the student-athletes. I wanted them to focus on what they needed to do. I didn't want to pull from that. I didn't want to, all of a sudden, now make it about me and my family."

A few hours later, he returned to the team hotel and acted as if he had been there the entire day, speaking nothing about his trip to the hospital. Shaw put on his lime green pin and made his way toward the bus. The short ride to the stadium felt long that day. His mind wandered before returning to the flip card in front of him.

As he exited the bus and finished the walk to the stadium, his two young nieces ran up to him. They squeezed him, holding on longer than usual, as if they knew their Uncle David was their only option, too.

He worried players would notice him moving around so slowly. If they did, no one said a word. Shaw kept pushing the pain aside, shoving his emotions down deep, saying prayers every chance he got.

On Wednesday, Shaw woke up and was so lethargic, he felt as if he was moving like a sloth. He went to the hospital for the final procedure: extracting the cells from his blood. Shaw wore comfortable clothes, arranged his pillows and settled in for a long day ahead. Doctors hooked him up to a machine that would do the work through two IVs: One took his blood so the needed donor cells could be siphoned out; the other IV would put the blood back in his body.

Eric rested on another floor in the same hospital.

David worked on his game plan, watched a few movies and occasionally stared at his own blood in the IVs, willing it to save his brother. He kept saying to himself over and over again, "God, I hope this works."

After eight hours, he was finished. Shaw then went out to practice.

"I remember walking up to him and just asking him, 'How are you doing, how are you feeling?'" Anderson said. "I could see it in him that he wasn't his normal self. He paused for a little bit and then he's like, 'I'm OK. A little bit tired, but I'm OK.' You know, just trying to put the most positive light that he could on it."

The next day, Nov. 1, 2018, Shaw went back to the hospital. It was transplant day, and he had to be with Eric to witness what they hoped would be a miracle. David and Crystal watched as Eric received a transfusion of David's stem cells, a shimmering light pink fluid flowing into his body. They sang and prayed. Already, they had received one small bit of good news: Doctors extracted 28 million cells from David's blood, about 20 million more than what they had hoped to get.

Stanford traveled the following day to Seattle, for a game against Washington. David felt guilty for leaving, but he knew there was nothing else he could do. Eric struggled in the hospital, not only from the transplant, but from the heavy chemo and radiation doctors used to prepare his body for the new cells.

Eric ran a fever of 105 degrees and vomited for days. The pain grew so intense he was put on a morphine drip and was in and out of consciousness. In Seattle, Shaw remembers being locked into the game, "except for those little moments where my heart was with my brother."

Stanford lost another heartbreaker, 27-23.

"I know us losing had nothing to do with everything David was going through," Dale said. "But just piling that on with everything else he was dealing with, it was a lot for him. He brought that up many times, about how Eric would tell him the biggest excitement for him every week was watching us play and watching us win. I know David had a lot of pressure on himself, amongst the pressure he already has as a head coach, to win for Eric. And I know that every time he did, he really felt like it was for him. And when we came up short, I know he was probably even harder on himself than he normally would have been."

Back at Stanford, David visited Eric when he could. But the waiting game took an increasing mental toll. David prides himself on his ability to compartmentalize, to focus on the only thing in front of him. He never spaces out, and he rarely gets emotional. But Shaw was falling apart on the inside.

He often found himself staring at cut-ups of red zone plays, not realizing the film had been paused for 20 minutes while his mind drifted off. Whenever that happened, he would stop and call someone, either his brother, his wife, his mother or Crystal just to see how they were doing.

"There were times where I thought life was slow motion, but it was actually moving and I was the one who was in slow motion," David said. "I found myself sometimes saying, 'Is this real? Is this really happening? This shouldn't happen.'"

In the middle of every single meeting, in the middle of every single film session, he silently prayed, "God help my brother. Just please let this one work."

"I look back now and I know more of everything that was going on and the situation," Anderson said. "I realized how much he was dealing with and how much he had to bear that week. And it's amazing that he was able to go through that week without really letting any of us really know exactly what he was going through and what a big deal this really was."

Within a few weeks, Eric started to turn a corner. Though they did not know whether the transplant had worked just yet, he showed enough improvement to leave the hospital after 52 days. David arrived for the big day, and Eric slowly put on a protective mask before shuffling to a waiting wheelchair. Doctors, nurses and support staff lined the hallway, clapping and cheering.

David cries when recalling that moment, his pent-up emotions flooding out as he describes it publicly for the first time.

"This is my little brother, after years of cancer, getting to leave the hospital," Shaw said, his voice quavering. He pauses to wipe tears from his eyes. "The nurses were crying. The doctors were crying. Because a few months earlier, they were preparing us for him to die. And he got to go home."

Three days later, doctors met with Eric and Crystal to deliver the results from the transplant. After only 27 days, Eric had none of his own blood coursing through his body.

It was all David's.

Eric picked up the phone.

"Dave," Eric said. "You have a twin. We're truly blood brothers."

Eric, who turns 46 on Friday, has lived a fairly normal life since he was declared cancer free on Jan. 1, 2019, although the coronavirus pandemic has limited how often the Shaw family can see each other.

In September, they decided to get together to celebrate all of their recent birthdays at David's house. They stayed outdoors, socially distanced, with masks on. Eric and David allowed themselves a hug, their heads turned to the side.

"Every time I see him, I just smile, you know? Because he gets to be here," David said.

More:
'We're truly blood brothers': Stanford coach David Shaw and his recent fight to save his brother, Eric - KGO-TV

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