StemCell Therapy

Waking up the dead science fiction or a Halloween night horror movie? No, thats the goal of Bioquarks ReAnima project. The project aims to restore neuronal activity in brain dead people by combining several techniques: stem cell injection, nerve stimulation, and laser.

Stem Cells

Stem cells are increasingly becoming a serious treatment option for many nervous disorders: Alzheimers, Parkinsons, brain injuries, etc. So why not repair the brains of the dead to bring them back to life? This idea, worthy of a science fiction (or horror) film, is the crazy project of a company based in Philadelphia: Bioquark.

Read Also: Old Human Cells Successfully Rejuvenated Via Stem Cell Technology

This is not the first time that the company wants to participate in such an experiment. In 2016, the ReAnima study was launched in Bangalore, India, together with Himanshu Bansal, an orthopedic surgeon at Anupam Hospital. His plan was to combine several techniques to revive 20 brain dead people.

ReAnima consisted of injecting patients with mesenchymal stem cells and peptides that help regenerate brain cells; these peptides were to be supplied by Bioquark. In addition to these injections, transcranial laser stimulation and nerve stimulation were planned. This project was stopped by the Indian authorities in November last year, as revealed then by Science magazine.

But the company did not admit defeat. This time, according to the company, they are close to finding a new location for their clinical trials. Ira Pastor, CEO of Bioquark, told the Stat website that the company would announce the process in Latin America in the coming months.

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If the experiment follows the same protocol as planned in India, it may involve 20 people. The clinical trial would again involve the injection of the patients stem cells, fat, blood Then a mixture of peptides would be injected into the spinal cord to stimulate the growth of new nerve cells. This compound, called BQ-A, was tested on animal models with head trauma. In addition, the nerves would be stimulated by nerve stimulation and 15 days of laser therapy to stimulate the neurons to make nerve connections. Researchers could then monitor the effects of this treatment using electroencephalograms.

But such a protocol raises many questions: How would a clinical trial be conducted on officially deceased people? If the person recovers some brain activity, in what state would he be? Will families be given false hope with a treatment that may take a long time?

Read Also: UC San Diego: Adult Brain Cells Revert to Younger State Following Injury, Study Shows

There is no indication that such a protocol will work. The company has not even tested the entire treatment on animal models! The mentioned treatments, such as injection of stem cells or transcranial stimulation, were tested in other situations, but not in cases of brain death. In an article published in 2016, neurologist Ariane Lewis and bioethicist Arthur Caplan stressed that the experiment had no scientific basis and that it gave families false and cruel hopes of a cure.

Experiment to raise the dead blocked in India

Response to a trial on reversal of Death by Neurologic Criteria

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Philadelphia Based Company Wants to Bring Back the Dead With Stem Cells - Gilmore Health News

Scientists working on a lab-grown mini-lung are now using their living model to better understand the current pandemic and potential new treatments.

The most recent version of this unique organoid is based entirely on human stem cells, known to repair the deepest parts of our lungs. When the researchers exposed it to SARS-CoV-2, the results were illuminating.

Dropping just one of these self-renewing units into a dish containing a tailored growth solution can produce millions of cells in a clump that resembles the tiny air sacs in human lungs.

Known as alveoli, these balloon-like sacs have shown diffuse damage in fatal cases of COVID-19, and while this havoc is often attributed to a storm of immune cells called cytokines, we're still figuring out how lung injury actually comes about.

The new mini-model gives us a glimpse of the battle on a molecular scale, and while it's nowhere near as complex as a real human lung, that's also what makes it easier to control and observe.

The unique organoid includes just one type of lung stem cell, known as an alveolar type 2 epithelial cell (AT2), which has the ability to self-renew, differentiate into other lung cells, keep the sac open with surfactants, and directly bind to viruses.

When the SARS-CoV-2 virus was introduced into this organoid's dish, researchers say the virus quickly infected the AT2 cells and spread throughout the alveoli-like structure.

The infection also triggered an inflammatory response in the organoid, reducing the production and proliferation of surfactant and inducing cell death, sometimes in surrounding areas that hadn't even yet been touched by the virus.

"This is a major breakthrough for the field because we were using cells that didn't have purified cultures," explains Ralph Baric, an epidemiologist, microbiologist, and immunologist at the University of North Carolina.

"This is incredibly elegant work to figure out how to purify and grow AT2 cells in culture."

Analysing the gene expression of these mini-organs, researchers found the inflammatory state triggered by the SARS-CoV-2 infection led to the production of interferons, cytokines, chemokines, and activation of genes related to cell death.

What's more, these signatures showed "striking similarity" to what's seen in severe COVID-19 patients.The results also match recent growing evidence that suggests severe cases of COVID-19 trigger a cytokine storm that may leave the lungs susceptible to damage.

Most of these observations, however, come from autopsies and have not been observed in living tissue.

This newly-developed model is a unique and versatile new way to study respiratory viruses in action, and it shows how a cascade of defences within stem cells themselves may cause more damage than good.

"It was thought cytokine storm happened due to the large influx of immune cells, but we can see it also happens in the lung stem cells themselves," says cell biologist Purushothama Rao Tata from Duke University.

"Now we have a way to figure out how to energise the cells to fight against this deadly virus," he adds.

In another set of experiments on the mini-lung, researchers found that administering low doses of interferons before infection slowed the spread of the virus, whereas reducing interferons before infection worsened the damage.

This suggests interferons are somehow mediating the immune response in our alveoli, slowing the cascade of cell death as the lung tries to get ahead of the infection.

But this may not be the whole picture; it's just a small insight into what's going on.Other recent studies show that while interferons might be a helpful treatment at certain stages of infection, at other times they can make matters worse.

While there are still many kinks and details that need to be ironed out in their model, researchers hope they can one day grow mini-lungs on which hundreds of experiments can be run at the same time, allowing us to figure out how the lung responds to infection and also how we can best protect it.

There's never been a more important time to learn more.

The study was published in Cell Stem Cell.

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Here's What Happens When Lab-Grown Mini-Lungs Are Exposed to SARS-CoV-2 - ScienceAlert

Share This Article:Embryonic stem cells. Image by Prue Talbot / UC RiversideBy Dr. Larry Goldstein

A yes vote on Proposition 14 is crucial to continue the pace of medical research and our states journey to save lives. For millions of Californians who live with a chronic disease or condition, and who need new therapies, this may be their last hope. Advancing medical progress to fight devastating and life-threatening diseases and conditions is an urgent matter now.

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Proposition 14 will continue funding for the California Institute for Regenerative Medicine, the states stem cell research funding institute. This institute is advancing medical discoveries and treatments for dozens of life-threatening or chronic diseases and conditions, including cancer, diabetes, heart disease, Alzheimers, Parkinsons, COVID-19 and more.

It is important to understand that the federal government and the private sector wont adequately fund the development of many important stem cell therapies. While the federal government has a strong focus on early lab research, it has also effectively banned funding of many important types of stem cell research and is threatening to ban more. On the other end, private funders have different priorities when it comes to funding medical research they almost exclusively invest in late-stage clinical trials where they can profit faster at lower financial risk.

There is a glaring funding gap between early lab work and late-stage clinical trials known as The Valley of Death that often ends promising stem cell research. With the sole mission of advancing the most promising treatments and cures, the institute bridges this critical gap, ensuring that potential life-changing therapies are not left stranded. The institutes unique approach is driving our state to achieve more progress, much faster, than we could have imagined.

The institutes funding has catalyzed or funded more than 90 clinical trials, two FDA-approved cancer treatments, and nine new treatments that have been designated as breakthrough therapies and have been fast-tracked for FDA approval. These breakthroughs will potentially help patients with cancer, diabetes, kidney disease, blindness, spinal cord injuries and immunodeficiencies.

While most of the 90+ clinical trials are still underway, many lives appear to have already been saved or improved. Babies born without immune systems are now surviving as are cancer patients who have exhausted all other treatment options. The institute has funded projects to help patients with Type I Diabetes produce their own insulin, blind patients start to regain eyesight, and quadriplegics start to regain upper body function.

All of these treatments in the pipeline if and when approved will also lead to spin-off treatments because they are fundamentally changing our knowledge and approach to treating chronic diseases. For example, by saving the lives of babies born with fatal immune disorders, the new knowledge and technologies are now being applied to treat other types of disorders. Cancer therapies being developed are effectively treating a handful of cancers today, but the knowledge and technology created can be applied to treating many other forms of cancer.

If Californians do not pass Proposition 14, our journey ends here many discoveries could be left on the shelf, delaying lifesaving and life-changing treatments for years.

Furthermore, as our state recovers from the impacts of COVID-19, Proposition 14 will provide an economic stimulus it will generate additional tax revenue and create many new jobs, and it wont cost the state anything until 2026. At a time when the cost of treating chronic diseases is straining our state budget and California families, Proposition 14 seeks to fund crucial disease research at a cost of less than a fraction of 1% of what Californians spend on chronic disease annually.

Close to 100 patient advocate organizations, major chambers of commerce across the state, Gov. Gavin Newsom, federal, state and local elected officials and the University of California Regents support Proposition 14. They do so because of its promise for therapy development, new business creation, and long-term financial benefit to all Californians.

We should remember that one of Californias core strengths is innovation and creation new types of businesses, new types of scientific research, and new ways to treat chronic diseases, conditions and illnesses. We cant afford to turn our back on these important goals. Our future depends on it. I hope you join me in voting YES on Proposition 14.

Dr. Larry Goldstein is a distinguished professor on the staff of the Shiley-Marcos Alzheimers Disease Research Centerat UC San Diego.

Opinion: Proposition 14 Could Save the Life of Someone You Love was last modified: October 31st, 2020 by Editor

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Opinion: Proposition 14 Could Save the Life of Someone You Love - Times of San Diego

The global market for cell viability assays should grow from $2.7 billion in 2018 to reach $4.1 billion by 2023 at a compound annual growth rate (CAGR) of 8.3% for the period of 2018-2023.

Report Scope:

The scope of this report is broad and covers various types of products available in the cell viability assays market and potential application sectors in various industries. The cell viability assays market is broken down by product into instruments and consumables. Revenue forecasts from 2018 to 2023 are given for each product, application, cell type and end user, with estimated valued derived from the revenues of manufacturers. Revenue generated from the installation and maintenance of instruments has been excluded from the report.

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The report also includes a discussion of the major players in each regional cell viability assays market. Further, it explains the major drivers and regional dynamics of the global market and current trends within the industry.

The report concludes with a special focus on the vendor landscape and includes detailed profiles of the major players in the global cell viability assays market.

Report Includes:

95 data tables and 66 additional tables An overview of the global cell viability assays market Analyses of global market trends, with data from 2017, 2018, and projections of compound annual growth rates (CAGRs) through 2023 Information on various type of products available in the cell viability assays market and potential applications across various industries Examination of the main product applications and markets in an effort to help companies and investors prioritize product opportunities and strategic movements Evaluation of key industry and market trends, and quantification of the main market segments, allowing the reader to better understand the industrys structure and changes occurring within it Coverage of innovations and development in stem cell research, toxicity testing and tissue engineering Insight into regulatory framework and investment analysis in the healthcare sector Detailed profiles of the major players of the industry, including Bio-Rad Laboratories Inc., Danaher Corp., GE Healthcare, Merck KGaA and R&D Systems Inc.

Summary

Cell viability assays refer to a homogeneous method to determine the number of viable cells within a culture. Cell viability measurements are used to evaluate the effectiveness of a drug candidate, rejection of implanted organs or evaluation of the life or death of cancerous cells. Cell viability assays are used in clinical and diagnostic applications, drug discovery and development, stem cell research, basic research and other applications such as toxicity testing and tissue engineering. Cell viability assays have proven to be extremely beneficial in drug discovery applications and the global cell viability assays market is projected to see rapid growth during the forecast period (2018-2023) owing to increasing emphasis on stem cell research and increasing demand for cell-based assays in research and development.

A surge in the number of potential biomarkers candidates for cell-based assays, growing incidence of infectious and chronic diseases and increasing focus on developing cell-based therapeutics are some of the major factors that are expected to promote the growth of global cell viability assays market. In addition, factors such as increasing healthcare expenditures and the global aging population are also providing traction for the global cell viability assays market growth during the forecast period. The growing prevalence of infectious and chronic diseases is considered to be the major driver behind the growth of the cell viability assays market. Cell viability measurements are used to evaluate theeffectiveness of a drug candidate, rejection of implanted organs or the life or death of cancerous cells.

According to the World Health Organization (WHO), the number of patients suffering from chronic diseases such as respiratory disease, cancer and cardiovascular disease totaled about 130 million people in 2005 and is expected to reach REDACTED by 2030. In addition, increasing emphasis on stem cell research is also poised to generate strong growth opportunities for cell viability assays. Governments globally are investing huge amounts on stem cell research. According to the U.S. Department of Health and Human Services, REDACTED billion was spent on stem cell research in 2016; this increased to REDACTED in 2017. In April 2017, Bayer AG and Versant Ventures (U.S.) announced plans to invest REDACTED to launch a stem cell research company in Canada and create a global hub for regenerative-medicinetherapies.

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The global cell viability assays market is projected to rise at a compound annual growth rate (CAGR) of REDACTED during the forecast period of 2018 through 2023. Market value is expected to rise from REDACTED in 2018 to REDACTED by 2023. Consumables held REDACTED of the market in 2017 in terms of revenue. By 2023, total revenue from consumables is expected to see a CAGR of REDACTED.

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Cell Viability Assays and Consumables Market to Remain Lucrative During 2018 2025 - Aerospace Journal

BURLINGAME, Calif.--(BUSINESS WIRE)--Humanigen, Inc. (HGEN) (Humanigen), a clinical stage biopharmaceutical company focused on preventing and treating an immune hyper-response called cytokine storm with lenzilumab, today announced that MedStar Washington Hospital Center in Washington, D.C. treated its first COVID-19 patient with lenzilumab. The primary goal of this Phase 3 randomized, double-blind, multicenter, placebo-controlled clinical trial is to determine if lenzilumab can help hospitalized patients with COVID-19 recover faster. As many as 89% of hospitalized patients with COVID-19 are at risk of a complication called cytokine storm, a harmful inflammation that has been the leading cause of COVID-19 death. MedStar Washington Hospital Center is one of 18 sites in the U.S. approved to enroll eligible patients to study lenzilumab, designed specifically to stop this storm. Eligible patients can participate in this trial while also receiving other standard-of-care therapies as recommended by their treating physician.

Given the growing number of cases in the D.C. area seen in the past few weeks, we were particularly motivated to ensure our Phase 3 study was enrolling and accessible, said Cameron Durrant, MD, MBA, chief executive officer of Humanigen. We have been impressed with the hospital leadership and trial investigators at MedStar Washington, and worked together with speed and efficiency to get this trial location ready to enroll patients.

For more information on participating in the Phase 3 COVID-19 trial of lenzilumab, please visit StopStorm.com, and talk to your doctor to see if you may be eligible to participate.

More details on Humanigens programs in COVID-19 can be found on the Companys website at http://www.humanigen.com under the COVID-19 tab, and details of the U.S. Phase 3 potential registration study can be found at clinicaltrials.gov using Identifier NCT04351152.

About Humanigen, Inc.

Humanigen, Inc. is developing its portfolio of clinical and pre-clinical therapies for the treatment of cancers and infectious diseases via its novel, cutting-edge GM-CSF neutralization and gene-knockout platforms. We believe that our GM-CSF neutralization and gene-editing platform technologies have the potential to reduce the inflammatory cascade associated with coronavirus infection. The companys immediate focus is to prevent or minimize the cytokine release syndrome that precedes severe lung dysfunction and ARDS in serious cases of SARS-CoV-2 infection. The company is also focused on creating next-generation combinatory gene-edited CAR-T therapies using strategies to improve efficacy while employing GM-CSF gene knockout technologies to control toxicity. In addition, the company is developing its own portfolio of proprietary first-in-class EphA3-CAR-T for various solid cancers and EMR1-CAR-T for various eosinophilic disorders. The company is also exploring the effectiveness of its GM-CSF neutralization technologies (either through the use of lenzilumab as a neutralizing antibody or through GM-CSF gene knockout) in combination with other CAR-T, bispecific or natural killer (NK) T cell engaging immunotherapy treatments to break the efficacy/toxicity linkage, including to prevent and/or treat graft-versus-host disease (GvHD) in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT). Additionally, Humanigen and Kite, a Gilead Company, are evaluating lenzilumab in combination with Yescarta (axicabtagene ciloleucel) in patients with relapsed or refractory large B-cell lymphoma in a clinical collaboration. For more information, visit http://www.humanigen.com.

Forward-Looking Statements

This release contains forward-looking statements. Forward-looking statements reflect management's current knowledge, assumptions, judgment and expectations regarding future performance or events. Although management believes that the expectations reflected in such statements are reasonable, they give no assurance that such expectations will prove to be correct and you should be aware that actual events or results may differ materially from those contained in the forward-looking statements. Words such as "will," "expect," "intend," "plan," "potential," "possible," "goals," "accelerate," "continue," and similar expressions identify forward-looking statements, including, without limitation, statements regarding our expectations for the Phase 3 study and the potential future development of lenzilumab, our pathway to our intended submission for, and potential receipt of, an Emergency Use Authorization and potential subsequent BLA from FDA, and statements regarding the potential for lenzilumab to be used to prevent or treat GvHD and, as sequenced therapy with Kites Yescarta, in CAR-T therapies. Forward-looking statements are subject to a number of risks and uncertainties including, but not limited to, the risks inherent in our lack of profitability; our dependence on partners to further the development of our product candidates; the costs and the uncertainties inherent in the development and launch of any new pharmaceutical product; the outcome of pending or future litigation; and the various risks and uncertainties described in the "Risk Factors" sections and elsewhere in the Company's periodic and other filings with the Securities and Exchange Commission.

All forward-looking statements are expressly qualified in their entirety by this cautionary notice. You should not place undue reliance on any forward-looking statements, which speak only as of the date of this release. We undertake no obligation to revise or update any forward-looking statements made in this press release to reflect events or circumstances after the date hereof or to reflect new information or the occurrence of unanticipated events, except as required by law.

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Humanigen Announces First Patient Dosed at MedStar Washington Hospital Center in Phase 3 Clinical Study of Lenzilumab in COVID-19 - Business Wire

Newswise PHILADELPHIAThe international hunt to find more genetic risk markers for testicular cancer is expanding. A team of researchers led by Katherine L. Nathanson, MD, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in the Perelman School of Medicine at the University of Pennsylvania, was recently awarded $5.4 million over five years from the National Institutes of Health to continue the long-standing genomics work of the TEsticular CAncer Consortium (TECAC).

A total of nearly $7 million has been awarded to TECAC, which includes researchers from 27 institutions around the world, whose collaborative goal is understand the genetic susceptibility to testicular germ cell tumors (TGCT).

TGCT are the most common cancer in the United States and Europe in men between the ages of 15 to 45, and the number of cases has continued to rise over the past 40 years. Approximately 50 percent of the risk of disease is due to genetic factors, higher than for other cancer types.

To date, TECAC has identified 22 novel susceptibility alleles, bringing the total number of risk markers to 66. Nathanson led a study in 2017 published in Nature Genetics that identified eight of those markers in previously unknown gene regions, as well as four in previously identified regions.

Members of TECAC also were the first to identify CHEK2, a moderate penetrance gene for TGCT. Penetrance refers to the proportion of people with a mutation in specific gene. Unlike other solid tumor types (e.g. breast, ovarian), the inherited risk of TGCT is likely due to multiple variants rather than any single gene.

Our work has revealed critical roles for genetic variants and mutations in testicular germ cell tumors and defined the biology of TGCTs as associated with defects in maturation of male germ cells, but theres still much more to discover with this highly heritable disease, Nathanson said. This grant will allow us to continue to pool our resources and expertise to better understand its biology and etiology, as well as provide data that can help identify men at higher risk of the disease and in need of surveillance.

The latest round of funding will focus on three projects: identify rare and common variants using whole exome genetic sequencing from biosamples of more than 2,000 men; conduct a transcriptome-wide association study, or TWAS, to identify novel candidate susceptibility genes in nearly 250,000 men (the largest to date); and further evaluate any variants or gene discovered from those two projects using tools, such as CRISPR, in cells.

Other Penn collaborators on this grant (R01 CA164947 A1) include David Vaughn, Linda Jacobs, Li-San Wang and Mingyao Li.

##

Penn Medicineis one of the worlds leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania(founded in 1765 as the nations first medical school) and theUniversity of Pennsylvania Health System, which together form a $8.6 billion enterprise.

The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $494 million awarded in the 2019 fiscal year.

The University of Pennsylvania Health Systems patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Centerwhich are recognized as one of the nations top Honor Roll hospitals byU.S. News & World ReportChester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nations first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is powered by a talented and dedicated workforce of more than 43,900 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2019, Penn Medicine provided more than $583 million to benefit our community.

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Penn Medicine Researchers Receive $5.4 million Grant to Find Genetic Drivers of Testicular Cancer - Newswise

BOSTON and MONTRAL, Oct. 29, 2020 /PRNewswire/ -enGeneInc.,abiotechnology company developing non-viral gene therapies for local administration into mucosal tissues enabled by its proprietary DDX platform, announced today an award from the Cystic Fibrosis Foundation for the discovery of genetic medicines to treat patients with cystic fibrosis (CF).

The award was made as a part of the CF Foundation's $500 million Path to a Cure initiative to accelerate the discovery and development of treatments that address the underlying cause of the disease.

Affecting over 75,000 patients worldwide, CF is a genetic disease caused by mutations in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) that render a non-functional CFTR protein. Consequently, multiple organs are affected by disease, chief among them the lungs, where chronic infections and a worsening ability to breathe leads to progressive lung damage and premature death. Patients with nonsense and other rare mutations in both copies of the CFTR gene currently have no therapies that treat the underlying cause of the disease.

"Gene therapy holds promise for the treatment of CF by delivering a functional copy of the CFTR gene to the lungs to restore function and alleviate disease. enGene is developing a DDX-based inhalable formulation to carry DNA to the airways with the goal of functional complementation of CFTR mutations. We are thrilled to have the support of the Cystic Fibrosis Foundation to discover novel gene therapy candidates for patients with CF," commented Jose Lora, CSO of enGene.

In developing an inhalable gene therapy for CF, enGene is coupling a non-viral DNA payload to its biocompatible DDX carrier in an effort to create genetic medicines that allow repeatable and titratable dosing to achieve meaningful efficacy.

"Gene therapies have made a remarkable impact in many fields of medicine, but unlocking their full potential in mucosal tissues such as the lung has been elusive, leaving many patients with CF without available treatment options. We are honored to be working with the CF Foundation to accelerate our research and development efforts towards improving and extending the lives of all CF patients," said Jason Hanson, enGene's President and CEO.

About enGene Inc.enGene Inc. is a biotechnology company developing a proprietary non-viral gene therapy platform for localized delivery of nucleic acid payloads to mucosal tissues. The dually derived chitosan (DDX) platform has a high-degree of payload flexibility including DNA and various forms of RNA with broad tissue and disease applications. In addition to developing gene therapies for the lungs, enGene has developed a unique dual-immune activator for patients with non-muscle invasive bladder cancer which has completed IND-enabling studies. The company is evolving its technology to enable applications in multiple mucosal tissues with areas of high unmet medical need.www.engene.com/

Note regarding forward-looking statementsThis press release contains certain "forward-looking statements" that reflect the Company's beliefs and assumptions based on currently available data and information. These forward-looking statements fall within the meaning of the "safe harbor" provisions of the U.S. Private Securities Litigation Reform Act of 1995. Forward-looking statements can be identified by words such as: "target," "believe," "expect," "will," "may," "anticipate," "estimate," "would," "positioned," "future," and other similar expressions that predict or indicate future events or trends or that are not statements of historical matters. Forward-looking statements are neither historical facts nor assurances of future performance. Instead, they are based only on enGene's current beliefs, expectations, and assumptions that by definition involve risks, uncertainties, that are difficult to predict and are subject to factors outside of management's control and that could cause actual results to differ substantially from statements made including but not limited to: risks associated with the success of preclinical studies, clinical trials, research and development programs, as well as regulatory approval processes. Actual results and outcomes may differ materially from those indicated in the forward-looking statements. enGene has no approved drugs available for sale marketing at this time and may never have an approved drug. You are cautioned not to rely on enGene's forward looking statements, which are only made as of the date hereof. The Company is under no obligation to update these statements.

SOURCE enGene

http://engene.com/

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enGene Receives Funding Through Cystic Fibrosis Foundation's Path to a Cure for the Discovery of Novel Gene Therapies to Treat Cystic Fibrosis -...

SAN DIEGO, Oct. 27, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that human genetics researchers using the Saphyr system will present their results at the American Society of Human Genetics (ASHG) Annual Meeting, being held virtually at http://www.ashg.org between October 27-30. The impact of structural variation analysis using the Saphyr system will be demonstrated at ASHG with 18 oral and poster presentations which cover an expanding array of diseases like cancer predisposition, microdeletion syndromes, repeat expansion disorders, neurodegenerative diseases, disorders of sex development and a variety of other genetic diseases. Additionally, these presentations show Saphyrs abilities to elucidate the exact structure of complex genomic rearrangements such as large inversions, chromothripsis and low copy repeats.

The scientific importance and quality of the studies utilizing Saphyr and presented at ASHG have increased year over year, said Erik Holmlin, Ph.D., CEO of Bionano. As more scientists present and publish their important discoveries made with Saphyr, an increasing number of potential future Saphyr users become aware of its prowess in uncovering novel genetic variants that contribute to cancer and genetic disease, which could drive more adoption and utilization for basic genetic research and clinical studies alike.

Below is a summary of key presentations to be given at ASHG 2020 featuring the use of Bionanos optical genome mapping technology:

Live Presentation October 29, 2020, 11:45AM-12:00PMDeciphering Genomic InversionsChristopher M. Grochowski, Baylor College of MedicineGenomic inversions are a class of structural variation (SV) relevant in evolution, speciation, and human disease but challenging to detect and resolve using current genomic assays. While short-read WGS can detect a fraction of copy number neutral inversions, those mediated by repeats or accompanied by CNVs remain challenging. The utilization of multiple technologies and visualization of unbroken DNA through long molecule approaches facilitate detection ofin cisevents and resolution of SVs containing two or more breakpoint junctions.

The following Co-Labs, Poster Sessions and Abstracts are available for on-demand viewing during and after ASHG 2020:

Bionano Laboratory Co-Lab Session: Resolving Complex Haplotypes Implicated in Alzheimers and Other Neurodegenerative Diseases.Mark T. W. Ebbert, Neuroscience Department, Mayo ClinicAlzheimers disease is genetically complex with no meaningful therapies or pre-symptomatic disease diagnostics. Most of the genes implicated in Alzheimers disease do not have a known functional mutation, meaning there are no known molecular mechanisms to help understand disease etiology.

In this co-lab session, Mark T. W. Ebbert of the Mayo Clinic will discuss his teams work toward identifying functional structural mutations that drive disease in order to facilitate a meaningful therapy and pre-symptomatic disease diagnostic. Some of the genes and regions implicated in Alzheimers disease are genomically complex and cannot be resolved with short-read sequencing technologies. These regions include MAPT, CR1, and the histocompatibility complex (including the HLA genes).

3342 Bionano Poster Session: High Throughput Analysis of Disease Repeat Expansions and Contractions by Optical MappingErnest Lam, Sr Manager Bioinformatics, Bionano GenomicsRepeat expansions and contractions are associated with degenerative disorders such as facioscapulohumeral muscular dystrophy (FSHD). Southern Blotting is the gold standard for long repeat analysis but has many limitations. Optical genome mapping allows for efficient analysis of diseases associated with repeat expansion and contraction.

2190 Bionano Poster Session: Rapid Automated large Structural Variation Detection in Mouse Genome by Whole Genome SequencingJill Lai, Sr Applications Scientist, Bionano GenomicsIdentifying SVs for key model organisms such as mouse and rat is essential for genome interpretation and disease studies but has been historically difficult due to limitations inherent to available genome technologies. We updated the Saphyr analysis pipeline such that copy number variant (CNV) and SV analyses could now be applied to mouse and other non-human species, and constructed a control SV database for annotating variants, and identified strain-specific SVs/CNVs as well as variation shared among strains.

Additional presentations/abstracts featuring optical genome mapping:

3208 - Long-read sequencing and optical mapping decipher structural composition ofATXN10repeat in kindred with spinocerebellar ataxia and Parkinsons diseasePresented by Birgitt Schuele, Associate Professor, Department of Pathology, Stanford University School of Medicine

3270 - Uniparental isodisomy, structural and noncoding variants involved in inherited retinal degeneration (IRD) in three pedigreesPresented by Pooja Biswas, Ophthalmology Department, University of California, San Diego

Data CoLab: Whole Genome Map Assembly and Structural Variation Analysis with Hitachi Human Chromosome ExplorerPresented by Hitachi-High-Tech America, Inc.

2123 - High-throughput sequencing and mapping technologies applied to 10 human genomes with chromothripsis-like rearrangementsPresented by Uir Souto Melo, Mundlos Lab, Max Planck Institute for Molecular Genetics, Berlin, Germany

2165 -nanotatoR: A tool for enhanced annotation of genomic structural variantsPresented by Emmanuele Delot, Center for Genetic Medicine Research, Childrens National Hospital, Washington, DC

2998 - Highly variable structure and organization of the human 3q29 subtelomeric segmental duplicationsPresented by Umamaheswaran Gurusamy, Cardiovascular Research Institute, University of California San Francisco

2304 - Enlightening the dark matter of the genome: Whole genome imaging identifies a germline retrotransposon insertion inSMARCB1in two siblings with atypical teratoid rhabdoid tumorPresented by Mariangela Sabatella, Princess Mxima Center for Pediatric Oncology, Utrecht, Netherlands

2318 - FaNDOM: Fast Nested Distance-based seeding of Optical MapsPresented by Siavash Raeisi Dehkordi, Computer Science & Engineering, University of California San Diego, La Jolla

3023 - Structural hypervariability of low copy repeats on chromosome 22 is human specificPresented by Lisanne Vervoort, Department of Human Genetics, KU Leuven, Leuven, Belgium

3024 - Telomere-to-telomere assembly and complete comparative sequence analysis of the human chromosome 8 centromereReviewer's Choice Award RecipientPresented by Glennis Logsdon, Genome Sciences, University of Washington, Seattle, WA

3311 - Comprehensive structural variant identification with optical genome mapping and short-read sequencing for diagnosis of disorders/differences of sex development (DSD)Reviewer's Choice Award RecipientPresented by Hayk Barseghyan, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC

3318 - De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromePresented by H.J. Kao, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan

3560 - Resolving genomic structures inMECP2Duplication Syndrome provides insight into genotype-phenotype correlationsReviewer's Choice Award RecipientPresented by Davut Pehlivan, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

2157 -methometR: quantification of long-range haplotype specific methylation levels from Optical Genome MapsPresented by Surajit Bhattacharya, Center for Genetic Medicine Research, Childrens Research Institute, Childrens National Hospital, Washington, DC

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 timing and content of the presentations identified in this press release; the effectiveness and utility of Bionanos technology in basic genetic research and clinical settings; the contribution of Saphyr to uncovering novel genetic variants that contribute to cancer and genetic disease; the benefits of Bionanos optical mapping technology and its ability to facilitate genomic analysis in future studies; 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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Prowess of Bionano Genomics' Saphyr System in Uncovering Novel Genetic Variations That Cause Cancer and Genetic Disease in Full Display at ASHG 2020 -...

Scientists in Vienna have developed a new human tissue screening technique that has identified previously unknown genes involved in causing microcephaly, a rare genetic disorder, and that could one day be used to identify unknown genes tied to other conditions.

In a study published Thursday in Science, researchers screened lab-grown human brain tissues for 172 genes thought to be associated with microcephaly, a condition in which babies are born with smaller-than-normal brains and have severe mental impairments. The search revealed 25 new genes linked to this rare neurological condition, adding to the 27 already known genes tied to microcephaly. The researchers also uncovered the involvement of certain pathways that were previously unknown to be connected to the disease.

This is a proof of concept, said Jrgen Knoblich, a molecular biologist at the Austrian Academy of Sciences Institute of Molecular Biotechnology and co-author of the study. With our ability to query many diseased genes at the same time and ask which ones are relevant in a human tissue, we can now study other diseases and other organs.

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For decades scientists have relied on small animals as models to make sense of how a human brain develops. But it turns out that our brains are not blown-up versions of a rodent brain. Mice and rat brain surfaces, for instance, are smooth, unlike the shrivelled walnut look of a human brain, with its countless folds. Also, these rodents are born with a somewhat complete brain, in which most neurons are in place, although they continue to form new connections after birth. In a human child, on the other hand, there are a massive number of neurons that form and populate the cortex after birth.

There are some processes that happen in our brain and not in mice brains that are responsible for human brains becoming so big and powerful, Knoblich said. This generates a very big medical problem, which is how do we study processes that are only happening in humans.

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To address this problem, several scientists including Knoblich developed human brain organoids that are no bigger than a lentil, created from stem cells, and function just like a working human brain. With an interest in studying neurodevelopmental disorders like microcephaly, Knoblichs team used these miniature substitute brains to look for clues about the genes that may hamper brain development.

Typically, scientists conduct genetic screening by inactivating select genes one by one to understand their contribution to bodily functions. But screens of human genes are restricted to cells grown in petri dishes in two dimensions, in which cells dont interact very much.

Microcephaly is a tissue disease and we couldnt really study it in 2D, said Christopher Esk, a molecular biologist at the Austrian Academy of Sciences Institute of Molecular Biotechnology and co-lead author of the study.

So, the researchers developed a technique called CRISPR-Lineage Tracing at Cellular resolution in Heterogeneous Tissue, which uses the gene-editing technology to make cuts in DNA and knockout genes in combination with a barcoding technology that tracks parent stems and their progeny cells as the 3D brain organoid develops.

Using an organoid developed from cells of a microcephalus patient, they kept an eye out for mutations that gave rise to fewer cells and thus a small brain in comparison with a healthy one.

The researchers used CRISPR-LICHT to simultaneously screen 172 potential microcephaly causing gene candidates and found 25 to be involved.

Among them was a gene called Immediate Early Response 3 Interacting Protein 1 in the endoplasmic reticulum, which is the protein processing station within a cell. This protein processing is required to properly process other proteins, among them extracellular matrix proteins, which are in turn important for tissue integrity, and thus brain size, Esk said.

Kristen Brennand, a stem cell biologist at the Icahn School of Medicine at Mount Sinai in New York, who wasnt involved in the study, said she appreciated how the research captured this causal link. Clinical genetics can identify mutations in patients, but fall short of identifying causal mutations that definitively underlie disease risk, she said.

Going forward, Knoblich and his colleagues hope to use CRISPR-LICHT to screen many more genes that may be associated with other brain development disorders. Weve done it for microcephaly, and were already doing it for autism, he said. But the method can be applied to any type of organoid or any type of disease and any cell type.

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New screening tool could turn up genes tied to developmental disorders - STAT

Patients who participated in the Beat AML Master clinical trial were found to have superior outcomes with precision medicine, compared to patients with acute myeloid leukemia (AML) who opted for standard chemotherapy treatment, according to a study published in Nature Medicine.1

Overall, the study demonstrated that a precision medicine therapy strategy in AML is feasible within 7days of sample receipt and before treatment selection, allowing patients and physicians to rapidly incorporate genomic data into treatment decisions without increasing early death or adversely impacting overall survival (OS).

The study shows that delaying treatment up to seven days is feasible and safe, and that patients who opted for the precision medicine approach experienced a lower early death rate and superior overall survival compared to patients who opted for standard of care, corresponding author John C. Byrd, MD, D. Warren Brown Chair of Leukemia Research of The Ohio State University, said in a press release.2 This patient-centric study shows that we can move away from chemotherapy treatment for patients who wont respond or cant withstand the harsh effects of the same chemotherapies weve been using for 40 years and match them with a treatment better suited for their individual case.

In the ongoing Beat AML trial, researchers prospectively enrolled untreated patients with AML who were60 years or older with the aims of providing cytogenetic and mutational data within 7days of the sample receipt and before treatment selection, followed by treatment assignment to a sub-study based on the dominant clone. In total, 487 patients with suspected AML were enrolled in the study and 395 were deemed eligible for analysis.

The median age of the participants was 72 years (range 60-92 years). Overall, 374 patients (94.7%) had genetic and cytogenetic analysis completed within 7days and were centrally assigned to a Beat AML sub-study, while 224 (56.7%) were enrolled on a Beat AML sub-study. The remaining 171 patients elected to receive either standard of care (n = 103), investigational therapy (n = 28), or palliative care (n = 40). Moreover, 9 patients died before treatment assignment.

Demographic, laboratory, and molecular characteristics were not found to be significantly different between patients on the Beat AML sub-studies and those receiving standard of care (induction with cytarabine+daunorubicin [7+3 or equivalent] or hypomethylation agent).

However, 30-day mortality was less frequent, and OS was significantly longer for patients enrolled on the Beat AML sub-studies versus those who elected to receive standard of care. The median OS for patients included in the Beat AML trial was 12.8 months versus 3.9 months for patients opting for standard of care.

To date, the trial has now screened more than 1000 patients at 16 cancer centers. The data presented herein represents patient enrollment during a slice of time between November 17, 2016 and January 30, 2018.

The study is changing significantly the way we look at treating patients with AML, showing that precision medicine, giving the right treatment to the right patient at the right time, can improve short and long-term outcomes for patients with this deadly blood cancer, Louis J. DeGennaro, PhD, president and CEO of the Leukemia & Lymphoma Society (LLS), the conductor of the trial, said in the release. Further, Beat AML has proven to be a viable model for other cancer clinical trials to emulate.

Recently, LLS launched itsBeat COVIDtrial, which leveraged the Beat AML infrastructure to quickly pivot to treat patients with blood cancer who are infected with the coronavirus disease 2019 (COVID-19) virus. The trial is testing the drug acalabrutinib (Calquence), which is currently approved to treat several types of blood cancers. The trial is open to patients diagnosed with all types of blood cancers.

Additionally, LLS is also planning other precision medicine trials modeled after Beat AML, including LLS PedAL, a global precision medicine trial for children with relapsed acute leukemia, currently on track to launch in summer 2021, and Stop MDS, a master trial for patients withmyelodysplastic syndromes.

References:

1. STUDY IN NATURE MEDICINE SHOWS SUPERIOR OUTCOMES FOR PATIENTS IN LLS'S PARADIGM-SHIFTING BEAT AML CLINICAL TRIAL [news release]. Rye Brook, NY. Published October 26, 2020. Accessed October 28, 2020. https://www.lls.org/news/study-in-nature-medicine-shows-superior-outcomes-for-patients-in-llss-paradigm-shifting-beat-aml-clinical-trial?src1=182886&src2=

2. Burd A, Levine RL, Ruppert AS, et al. Precision medicine treatment in acute myeloid leukemia using prospective genomic profiling: feasibility and preliminary efficacy of the Beat AML Master Trial. Nature Medicine. doi: 10.1038/s41591-020-1089-8

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Beat AML Master Clinical Trial Shows Promise for Precision Medicine in the Treatment of AML - Cancer Network

CAMBRIDGE, Mass., Oct. 29, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, will report third quarter 2020 financial results after the Nasdaq Global Market closes on Thursday, November 5, 2020. Subsequently, at 4:30 p.m. E.T., the Company will host a conference call to discuss its third quarter 2020 financial results and to provide a corporate update.

The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 9452027. Please specify to the operator that you would like to join the "Sarepta Third Quarter 2020 Earnings Call." The conference call will be webcast live under the investor relations section of Sarepta's website at http://www.sarepta.com and will be archived there following the call for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

About Sarepta Therapeutics At Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Company’s programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter , LinkedIn , Instagram and Facebook .

Internet Posting of Information

We routinely post information that may be important to investors in the 'Investors' section of our website at http://www.sarepta.com . We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors: Ian Estepan, 617-274-4052, iestepan@sarepta.com

Media: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

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Sarepta Therapeutics to Announce Third Quarter 2020 Financial Results and Recent Corporate Developments on November 5, 2020 - Stockhouse

Oct. 30, 2020 11:00 UTC

CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today announced it has won the 2020 Prix Galien USA Award for Best Biotechnology Product for ONPATTRO (patisiran). The award, which recognizes excellence in scientific innovation that improves the state of human health, was presented by the Galien Foundation during the 50th Annual Prix Galien USA Awards ceremony yesterday.

We are thrilled to receive this prestigious recognition for ONPATTRO and want to share this award with the incredible patients, caregivers, scientists, healthcare professionals, and colleagues that helped us succeed in making RNAi therapeutics, an entirely new class of medicines, a reality for patients, said John Maraganore, Ph.D., Chief Executive Officer of Alnylam. The breakthrough approval of ONPATTRO was a result of nearly two decades of determination to deliver the first-ever FDA-approved treatment to adult patients living with the polyneuropathy of hereditary ATTR (hATTR) amyloidosis. We also want to recognize the continued industry efforts in helping those living with this progressive, debilitating condition.

In 2019, ONPATTRO won the Prix Galien Award for Best Biotechnology Product in Italy and the Netherlands.

About ONPATTRO (patisiran)

ONPATTRO is an RNAi therapeutic that was approved in the United States and Canada for the treatment of the polyneuropathy of hATTR amyloidosis in adults. ONPATTRO is also approved in the European Union, Switzerland and Brazil for the treatment of hATTR amyloidosis in adults with Stage 1 or Stage 2 polyneuropathy, and in Japan for the treatment of hATTR amyloidosis with polyneuropathy. ONPATTRO is an intravenously administered RNAi therapeutic targeting transthyretin (TTR). It is designed to target and silence TTR messenger RNA, thereby blocking the production of TTR protein before it is made. ONPATTRO blocks the production of TTR in the liver, reducing its accumulation in the bodys tissues in order to halt or slow down the progression of the polyneuropathy associated with the disease. For more information about ONPATTRO, visit ONPATTRO.com.

ONPATTRO (patisiran) lipid complex injection Important Safety Information

Infusion-Related Reactions

Infusion-related reactions (IRRs) have been observed in patients treated with ONPATTRO. In a controlled clinical study, 19 percent of ONPATTRO-treated patients experienced IRRs, compared to 9 percent of placebo-treated patients. The most common symptoms of IRRs with ONPATTRO were flushing, back pain, nausea, abdominal pain, dyspnea, and headache.

To reduce the risk of IRRs, patients should receive premedication with a corticosteroid, acetaminophen, and antihistamines (H1 and H2 blockers) at least 60 minutes prior to ONPATTRO infusion. Monitor patients during the infusion for signs and symptoms of IRRs. If an IRR occurs, consider slowing or interrupting the infusion and instituting medical management as clinically indicated. If the infusion is interrupted, consider resuming at a slower infusion rate only if symptoms have resolved. In the case of a serious or life-threatening IRR, the infusion should be discontinued and not resumed.

Reduced Serum Vitamin A Levels and Recommended Supplementation

ONPATTRO treatment leads to a decrease in serum vitamin A levels. Supplementation at the recommended daily allowance (RDA) of vitamin A is advised for patients taking ONPATTRO. Higher doses than the RDA should not be given to try to achieve normal serum vitamin A levels during treatment with ONPATTRO, as serum levels do not reflect the total vitamin A in the body.

Patients should be referred to an ophthalmologist if they develop ocular symptoms suggestive of vitamin A deficiency (e.g. night blindness).

Adverse Reactions

The most common adverse reactions that occurred in patients treated with ONPATTRO were upper respiratory-tract infections (29 percent) and infusion-related reactions (19 percent).

For additional information about ONPATTRO, please see the full Prescribing Information.

About hATTR Amyloidosis

Hereditary transthyretin (TTR)-mediated amyloidosis (hATTR) is an inherited, progressively debilitating, and often fatal disease caused by mutations in the TTR gene. TTR protein is primarily produced in the liver and is normally a carrier of vitamin A. Mutations in the TTR gene cause abnormal amyloid proteins to accumulate and damage body organs and tissue, such as the peripheral nerves and heart, resulting in intractable peripheral sensory-motor neuropathy, autonomic neuropathy, and/or cardiomyopathy, as well as other disease manifestations. hATTR amyloidosis, represents a major unmet medical need with significant morbidity and mortality affecting approximately 50,000 people worldwide. The median survival is 4.7 years following diagnosis, with a reduced survival (3.4 years) for patients presenting with cardiomyopathy.

About RNAi

RNAi (RNA interference) is a natural cellular process of gene silencing that represents one of the most promising and rapidly advancing frontiers in biology and drug development today. Its discovery has been heralded as a major scientific breakthrough that happens once every decade or so, and was recognized with the award of the 2006 Nobel Prize for Physiology or Medicine. By harnessing the natural biological process of RNAi occurring in our cells, a new class of medicines, known as RNAi therapeutics, is now a reality. Small interfering RNA (siRNA), the molecules that mediate RNAi and comprise Alnylam's RNAi therapeutic platform, function upstream of todays medicines by potently silencing messenger RNA (mRNA) the genetic precursors that encode for disease-causing or disease pathway proteins, thus preventing them from being made. This is a revolutionary approach with the potential to transform the care of patients with genetic and other diseases.

About Alnylam Pharmaceuticals

Alnylam (Nasdaq: ALNY) is leading the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare genetic, cardio-metabolic, hepatic infectious, and central nervous system (CNS)/ocular diseases. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach for the treatment of a wide range of severe and debilitating diseases. Founded in 2002, Alnylam is delivering on a bold vision to turn scientific possibility into reality, with a robust RNAi therapeutics platform. Alnylams commercial RNAi therapeutic products are ONPATTRO (patisiran), approved in the U.S., EU, Canada, Japan, Brazil, and Switzerland, and GIVLAARI (givosiran), approved in the U.S, EU, Brazil and Canada. Alnylam has a deep pipeline of investigational medicines, including six product candidates that are in late-stage development. Alnylam is executing on its Alnylam 2020 strategy of building a multi-product, commercial-stage biopharmaceutical company with a sustainable pipeline of RNAi-based medicines to address the needs of patients who have limited or inadequate treatment options. Alnylam is headquartered in Cambridge, MA. For more information about our people, science and pipeline, please visit http://www.alnylam.com and engage with us on Twitter at @Alnylam or on LinkedIn.

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Alnylam Wins Prestigious Prix Galien Award for Best Biotechnology Product with First-Ever Approved RNAi Therapeutic, ONPATTRO (patisiran) - BioSpace

Oct. 29, 2020 12:00 UTC

Rare disease and neurology expert Dr. Angela Genge to lead QurAlis clinical R&D for ALS and FTD

CAMBRIDGE, Mass.--(BUSINESS WIRE)-- QurAlis Corporation, a biotech company focused on developing precision medicines for amyotrophic lateral sclerosis (ALS) and other neurologic diseases, today announced the appointment of Angela Genge, MD, FRCP(C), eMBA to the position of Chief Medical Officer (CMO). Dr. Genge is the Executive Director of the Montreal Neurological Institutes Clinical Research Unit and the Director of Montreal Neurological Hospitals ALS Global Center of Excellence.

The company also announced the formation of its Clinical Advisory Board, which will work closely with Dr. Genge on QurAlis clinical research and development programs in ALS and frontotemporal dementia (FTD) as the company prepares to move its pipeline to the clinical stage.

As QurAlis grows and advances quickly toward the clinic, we are proud to welcome to the team Dr. Genge, a world-renowned expert in ALS clinical drug development, and announce the highly esteemed group of ALS experts who will be forming our Clinical Advisory Board, said Kasper Roet, PhD, Chief Executive Officer of QurAlis. Dr. Genge has been treating patients and studying and developing therapeutics and clinical trials for ALS and other rare neurologic diseases for more than 25 years, diligently serving these vulnerable patient populations. Along with our newly formed Clinical Advisory Board, having a CMO with this extensive expertise, understanding and experience is invaluable to our success. Dr. Genge and our Board members are tremendous assets for our team who will undoubtedly help us advance on the best path toward the clinic, and we look forward to working with them to conquer ALS.

Previously, Dr. Genge directed other clinics at the Montreal Neurological Hospital including the Neuromuscular Disease Clinic and the Neuropathic Pain Clinic. In 2014, she was a Distinguished Clinical Investigator in Novartis Global Neuroscience Clinical Development Unit, and she has served as an independent consultant for dozens of companies developing and launching neurological therapeutics. Dr. Genge has served in professorial positions at McGill University since 1994.

At this pivotal period in its journey, QurAlis is equipped with a strong, committed leadership team and promising precision medicine preclinical assets, and I look forward to joining the company as CMO, said Dr. Genge. This is an exciting opportunity to further strengthen my work in ALS and other neurological diseases, and I intend to continue innovating and expanding possibilities for the treatment of rare neurological diseases alongside the dedicated QurAlis team.

QurAlis new Clinical Advisory Board Members are:

Dr. Al-Chalabi is a Professor of Neurology and Complex Disease Genetics at the Maurice Wohl Clinical Neuroscience Institute, Head of the Department of Basic and Clinical Neuroscience, and Director of the Kings Motor Neuron Disease Care and Research Centre. Dr. Al-Chalabi trained in medicine in Leicester and London, and subsequently became a consultant neurologist at Kings College Hospital.

Dr. Andrews is an Associate Professor of Neurology in the Division of Neuromuscular Medicine at Columbia University, and serves as the Universitys Director of Neuromuscular Clinical Trials. She currently oversees neuromuscular clinical trials and cares for patients with neuromuscular disease, primarily with ALS. Dr. Andrews is the elected co-chair of the Northeastern ALS (NEALS) Consortium and is also elected to the National Board of Trustees of the ALS Association.

Dr. Cudkowicz is the Julianne Dorn Professor of Neurology at Harvard Medical School and Chief of Neurology and Director of the Sean M. Healey & AMG Center for ALS at Mass General Hospital. As co-founder and former co-chair of the Northeast ALS Consortium, she accelerated the development of ALS treatments for people with ALS, leading pioneering trials using antisense oligonucleotides, new therapeutic treatments and adaptive trial designs. Through the Healey Center at Mass General, she is leading the first platform trial for people with ALS.

Dr. Shaw serves as Director of the Sheffield Institute for Translational Neuroscience, the NIHR Biomedical Research Centre Translational Neuroscience for Chronic Neurological Disorders, and the Sheffield Care and Research Centre for Motor Neuron Disorders. She also serves as Consultant Neurologist at the Sheffield Teaching Hospitals NHS Foundation Trust. Since 1991, she has led a major multidisciplinary program of research investigating genetic, molecular and neurochemical factors underlying neurodegenerative disorders of the human motor system.

Dr. Van Damme is a Professor of Neurology and director of the Neuromuscular Reference Center at the University Hospital Leuven in Belgium. He directs a multidisciplinary team for ALS care and clinical research that is actively involved in ALS clinical trials, but is also working on the genetics of ALS, biomarkers of ALS, and disease mechanisms using different disease models, including patient-derived induced pluripotent stem cells.

Dr. van den Berg is a professor of neurology who holds a chair in experimental neurology of motor neuron diseases at the University Medical Center Utrecht in the Netherlands. He also is director of the centers Laboratory for Neuromuscular Disease, director of the Netherlands ALS Center, chairman of the Neuromuscular Centre the Netherlands, and chairman of the European Network to Cure ALS (ENCALS), a network of the European ALS Centres.

About ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs disease, is a progressive neurodegenerative disease impacting nerve cells in the brain and spinal cord. ALS breaks down nerve cells, reducing muscle function and causing loss of muscle control. ALS can be traced to mutations in over 25 different genes and is often caused by a combination of multiple sub-forms of the condition. Its average life expectancy is three years, and there is currently no cure for the disease.

About QurAlis Corporation

QurAlis is bringing hope to the ALS community by developing breakthrough precision medicines for this devastating disease. Our stem cell technologies generate proprietary human neuronal models that enable us to more effectively discover and develop innovative therapies for genetically validated targets. We are advancing three antisense and small molecule programs addressing sub-forms of the disease that account for the majority of patients. Together with a world-class network of thought leaders, drug developers and patient advocates, our team is rising to the challenge of conquering ALS. http://www.quralis.com

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QurAlis Announces Appointment of New Chief Medical Officer and Formation of Clinical Advisory Board - BioSpace

Angelika Amon, professor of biology and a member of the Koch Institute for Integrative Cancer Research, died on Oct. 29 at age 53, following a two-and-a-half-year battle with ovarian cancer.

"Known for her piercing scientific insight and infectious enthusiasm for the deepest questions of science, Professor Amon built an extraordinary career and in the process, a devoted community of colleagues, students and friends," MIT President L. Rafael Reif wrote in a letter to the MIT community.

Angelika was a force of nature and a highly valued member of our community, reflects Tyler Jacks, the David H. Koch Professor of Biology at MIT and director of the Koch Institute. Her intellect and wit were equally sharp, and she brought unmatched passion to everything she did. Through her groundbreaking research, her mentorship of so many, her teaching, and a host of other contributions, Angelika has made an incredible impact on the world one that will last long into the future.

A pioneer in cell biology

From the earliest stages of her career, Amon made profound contributions to our understanding of the fundamental biology of the cell, deciphering the regulatory networks that govern cell division and proliferation in yeast, mice, and mammalian organoids, and shedding light on the causes of chromosome mis-segregation and its consequences for human diseases.

Human cells have 23 pairs of chromosomes, but as they divide they can make errors that lead to too many or too few chromosomes, resulting in aneuploidy. Amons meticulous and rigorous experiments, first in yeast and then in mammalian cells, helped to uncover the biological consequences of having too many chromosomes. Her studies determined that extra chromosomes significantly impact the composition of the cell, causing stress in important processes such as protein folding and metabolism, and leading to additional mistakes that could drive cancer. Although stress resulting from aneuploidy affects cells ability to survive and proliferate, cancer cells which are nearly universally aneuploid can grow uncontrollably. Amon showed that aneuploidy disrupts cells usual error-repair systems, allowing genetic mutations to quickly accumulate.

Aneuploidy is usually fatal, but in some instances extra copies of specific chromosomes can lead to conditions such as Down syndrome and developmental disorders including those known as Patau and Edwards syndromes. This led Amon to work to understand how these negative effects result in some of the health problems associated specifically with Down syndrome, such as acute lymphoblastic leukemia. Her expertise in this area led her to be named co-director of the recently established Alana Down Syndrome Center at MIT.

Angelikas intellect and research were as astonishing as her bravery and her spirit. Her labs fundamental work on aneuploidy was integral to our establishment of the center, say Li-Huei Tsai, the Picower Professor of Neuroscience and co-director of the Alana Down Syndrome Center. Her exploration of the myriad consequences of aneuploidy for human health was vitally important and will continue to guide scientific and medical research.

Another major focus of research in the Amon lab has been on the relationship between how cells grow, divide, and age. Among other insights, this work has revealed that once cells reach a certain large size, they lose the ability to proliferate and are unable to reenter the cell cycle. Further, this growth contributes to senescence, an irreversible cell cycle arrest, and tissue aging. In related work, Amon has investigated the relationships between stem cell size, stem cell function, and tissue age. Her labs studies have found that in hematopoetic stem cells, small size is important to cells ability to function and proliferate in fact, she posted recent findings on bioRxiv earlier this week and have been examining the same questions in epithelial cells as well.

Amon lab experiments delved deep into the mechanics of the biology, trying to understand the mechanisms behind their observations. To support this work, she established research collaborations to leverage approaches and technologies developed by her colleagues at the Koch Institute, including sophisticated intestinal organoid and mouse models developed by the Yilmaz Laboratory, and a microfluidic device developed by the Manalis Laboratory for measuring physical characteristics of single cells.

The thrill of discovery

Born in 1967, Amon grew up in Vienna, Austria, in a family of six. Playing outside all day with her three younger siblings, she developed an early love of biology and animals. She could not remember a time when she was not interested in biology, initially wanting to become a zoologist. But in high school, she saw an old black-and-white film from the 1950s about chromosome segregation, and found the moment that the sister chromatids split apart breathtaking. She knew then that she wanted to study the inner workings of the cell and decided to focus on genetics at the University of Vienna in Austria.

After receiving her BS, Amon continued her doctoral work there under Professor Kim Nasmyth at the Research Institute of Molecular Pathology, earning her PhD in 1993. From the outset, she made important contributions to the field of cell cycle dynamics. Her work on yeast genetics in the Nasmyth laboratory led to major discoveries about how one stage of the cell cycle sets up for the next, revealing that cyclins, proteins that accumulate within cells as they enter mitosis, must be broken down before cells pass from mitosis to G1, a period of cell growth.

Towards the end of her doctorate, Amon became interested in fruitfly genetics and read the work of Ruth Lehmann, then a faculty member at MIT and a member of the Whitehead Institute. Impressed by the elegance of Lehmanns genetic approach, she applied and was accepted to her lab. In 1994, Amon arrived in the United States, not knowing that it would become her permanent home or that she would eventually become a professor.

While Amons love affair with fruitfly genetics would prove short, her promise was immediately apparent to Lehmann, now director of the Whitehead Institute. I will never forget picking Angelika up from the airport when she was flying in from Vienna to join my lab. Despite the long trip, she was just so full of energy, ready to talk science, says Lehmann. She had read all the papers in the new field and cut through the results to hit equally on the main points.

But as Amon frequently was fond of saying, yeast will spoil you. Lehmann explains that because they grow so fast and there are so many tools, your brain is the only limitation. I tried to convince her of the beauty and advantages of my slower-growing favorite organism. But in the end, yeast won and Angelika went on to establish a remarkable body of work, starting with her many contributions to how cells divide and more recently to discover a cellular aneuploidy program.

In 1996, after Lehmann had left for New York Universitys Skirball Institute, Amon was invited to become a Whitehead Fellow, a prestigious program that offers recent PhDs resources and mentorship to undertake their own investigations. Her work on the question of how yeast cells progress through the cell cycle and partition their chromosomes would be instrumental in establishing her as one of the worlds leading geneticists. While at Whitehead, her lab made key findings centered around the role of an enzyme called Cdc14 in prompting cells to exit mitosis, including that the enzyme is sequestered in a cellular compartment called the nucleolus and must be released before the cell can exit.

I was one of those blessed to share with her a eureka moment, as she would call it, says Rosella Visintin, a postdoc in Amons lab at the time of the discovery and now an assistant professor at the European School of Molecular Medicine in Milan. She had so many. Most of us are lucky to get just one, and I was one of the lucky ones. Ill never forget her smile and scream neither will the entire Whitehead Institute when she saw for the first time Cdc14 localization: You did it, you did it, you figured it out! Passion, excitement, joy everything was in that scream.

In 1999, Amons work as a Whitehead Fellow earned her a faculty position in the MIT Department of Biology and the MIT Center for Cancer Research, the predecessor to the Koch Institute. A full professor since 2007, she also became the Kathleen and Curtis Marble Professor in Cancer Research, associate director of the Paul F. Glenn Center for Biology of Aging Research at MIT, a member of the Ludwig Center for Molecular Oncology at MIT, and an investigator of the Howard Hughes Medical Institute.

Her pathbreaking research was recognized by several awards and honors, including the 2003 National Science Foundation Alan T. Waterman Award, the 2007 Paul Marks Prize for Cancer Research, the 2008 National Academy of Sciences (NAS) Award in Molecular Biology, and the 2013 Ernst Jung Prize for Medicine. In 2019, she won the Breakthrough Prize in Life Sciences and the Vilcek Prize in Biomedical Science, and was named to the Carnegie Corporation of New Yorks annual list of Great Immigrants, Great Americans. This year, she was given the Human Frontier Science Program Nakasone Award. She was also a member of the NAS and the American Academy of Arts and Sciences.

Lighting the way forward

Amons perseverance, deep curiosity, and enthusiasm for discovery served her well in her roles as teacher, mentor, and colleague. She has worked with many labs across the world and developed a deep network of scientific collaboration and friendships. She was a sought-after speaker for seminars and the many conferences she attended. In over 20 years as a professor at MIT, she has mentored more than 80 postdocs, graduate students, and undergraduates, and received the School of Sciences undergraduate teaching prize.

Angelika was an amazing, energetic, passionate, and creative scientist, an outstanding mentor to many, and an excellent teacher, says Alan Grossman, the Praecis Professor of Biology and head of MITs Department of Biology. Her impact and legacy will live on and be perpetuated by all those she touched.

Angelika existed in a league of her own, explains Kristin Knouse, one of Amons former graduate students and a current Whitehead Fellow. She had the energy and excitement of someone who picked up a pipette for the first time, but the brilliance and wisdom of someone who had been doing it for decades. Her infectious energy and brilliant mind were matched by a boundless heart and tenacious grit. She could glance at any data and immediately deliver a sharp insight that would never have crossed any other mind. Her positive attributes were infectious, and any interaction with her, no matter how transient, assuredly left you feeling better about yourself and your science.

Taking great delight in helping young scientists find their own eureka moments, Amon was a fearless advocate for science and the rights of women and minorities and inspired others to fight as well. She was not afraid to speak out in support of the research and causes she believed strongly in. She was a role model for young female scientists and spent countless hours mentoring and guiding them in a male-dominated field. While she graciously accepted awards for women in science, including the Vanderbilt Prize and the Women in Cell Biology Senior Award, she questioned the value of prizes focused on women as women, rather than on their scientific contributions.

Angelika Amon was an inspiring leader, notes Lehmann, not only by her trailblazing science but also by her fearlessness to call out sexism and other -isms in our community. Her captivating laugh and unwavering mentorship and guidance will be missed by students and faculty alike. MIT and the science community have lost an exemplary leader, mentor, friend, and mensch.

Amons wide-ranging curiosity led her to consider new ideas beyond her own field. In recent years, she has developed a love for dinosaurs and fossils, and often mentioned that she would like to study terraforming, which she considered essential for a human success to life on other planets.

It was always amazing to talk with Angelika about science, because her interests were so deep and so broad, her intellect so sharp, and her enthusiasm so infectious, remembers Vivian Siegel, a lecturer in the Department of Biology and friend since Amons postdoctoral days. Beyond her own work in the lab, she was fascinated by so many things, including dinosaurs dreaming of taking her daughters on a dig lichen, and even life on Mars.

Angelika was brilliant; she illuminated science and scientists, says Frank Solomon, professor of biology and member of the Koch Institute. And she was intense; she warmed the people around her, and expanded what it means to be a friend.

Amon is survived by her husband Johannes Weis, and her daughters Theresa and Clara Weis, and her three siblings and their families.

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Angelika Amon, cell biologist who pioneered research on chromosome imbalance, dies at 53 - MIT News

Merger and acquisition activities have heated up in recent months and the niche spaces are in the limelight. After the telemedicine industry, gene therapy stocks jumped on the bandwagon. Gene therapy is a technique that uses genes to treat or prevent disease.

German drugmaker Bayer has made a big bet on gene therapy by announcing the acquisition of U.S. biotech firm Asklepios BioPharmaceutical for as much as $4 billion. The proposed acquisition will provide Bayer access to the adeno-associated virus (AAV) gene therapy platform and a pipeline led by clinical-phase treatments for Parkinsons, Pompe disease and congestive heart failure. Notably, AAV therapies offer improved efficacy, immune response, and tissue and organ specificity.

Additionally, the transaction will complements Bayers 2019 acquisition of BlueRock Therapeutics and advances its efforts to create platforms with the potential to have an impact on multiple therapeutic areas (read: Genomics ETFs Surge on Nobel Prize for Gene-Editing Pioneers).

Under the terms of the deal, Bayer will pay an upfront consideration of $2 billion and potential success-based milestone payments of up to $ billion. About 75 % of the potential milestone-based contingent payments are expected to be due during the course of the next five years and the remaining amount thereafter.

The deal, pending regulatory approvals, is expected to close during the fourth quarter of 2020. Once the deal closes, Bayer will allow Asklepios, known as AskBio, to operate autonomously as part of a new cell and gene therapy unit in a bid to preserve its entrepreneurial culture. The cell and gene therapy unit will bundle Bayer's activities in this area moving forward in order to establish an innovation ecosystem for the participating partners, the German company said (see: all the Healthcare ETFs here).

The proposed deal will provide a boost to the gene therapy industry. Below, we have highlighted four ETFs that are expected to benefit from Bayers entrance into the gene therapy space:

ARK Genomic Revolution Multi-Sector ETF (ARKG - Free Report)

This actively managed ETF is focused on companies that are likely to benefit from extending and enhancing the quality of human and other life by incorporating technological and scientific developments, and advancements in genomics into their business. With AUM of $2.9 billion, the fund holds 47 stocks in its basket and has 0.75% in expense ratio. It trades in an average daily volume of 978,000 shares (read: 4 Sector ETFs That Have Doubled This Year).

Invesco Dynamic Biotechnology & Genome ETF (PBE - Free Report)

This fund follows the Dynamic Biotech & Genome Intellidex Index and provides exposure to companies engaged in the research, development, manufacture and marketing and distribution of various biotechnological products, services and processes and companies that benefit significantly from scientific and technological advances in biotechnology and genetic engineering and research. It holds 31 stocks in its basket and charges 57 bps in annual fees. The ETF has managed $229.9 million in its asset base while trades in a light volume of 6,000 shares per day. Expense ratio comes in at 0.57%. The product has a Zacks ETF Rank #3 (Hold) with a High risk outlook.

Global X Genomics & Biotechnology ETF (GNOM - Free Report)

This product seeks to invest in companies that potentially stand to benefit from further advances in the field of genomic science, such as companies involved in gene editing, genomic sequencing, genetic medicine/therapy, computational genomics and biotechnology. It follows the Solactive Genomics Index, holding 40 stocks in its basket. This ETF has accumulated $68 million in its asset base and charges 50 bps in annual fees. It trades in average daily volume of 31,000 shares (read: Why You Should Invest in Genomics ETFs).

iShares Genomics Immunology and Healthcare ETF (IDNA - Free Report)

This ETF provides access to companies at the forefront of genomics and immunology innovation by tracking the NYSE FactSet Global Genomics and Immuno Biopharma Index. Holding 46 stocks in its basket, the fund has gathered $166.2 million in AUM and trades in moderate average daily volume of 58,000 shares. It charges 47 bps in annual fees.

Zacks free Fund Newsletter will brief you on top news and analysis, as well as top-performing ETFs, each week. Get it free >>

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ETFs in Focus on Bayer's Bet on Gene Therapy - Zacks.com

There may be a better way of repairing the insulation surrounding damaged neurons that could lead to new treatments for multiple sclerosis (MS), a study suggests.

The data showed that blocking the protein sphingomyelin hydrolase neutral sphingomyelinase 2, or nSMase2, could improve the quality of the myelin surrounding nerve cell fibers, and stabilize its structure. nSMase2 is responsible for breaking down sphingomyelin, which is a type of lipid (fat) molecule present in that protective myelin sheath.

The study, Inhibition of neutral sphingomyelinase 2 promotes remyelination, was published in the journal Science Advances.

MS is caused by the attack by immune cells to the bodys own myelin, a fatty insulation provided by oligodendrocyte cells that cover the long branches that extend from nerve cells, which are called axons. When myelin is destroyed called demyelination the connections between neurons become defective and MS symptoms arise.

Most individuals with relapsing-remitting MS (RRMS), an intermittent form of multiple sclerosis, have acute episodes of demyelination. RRMS may evolve to secondary progressive MS (SPMS), in which progressive neurological deterioration occurs and myelin can no longer repair itself.

Suppressing the immune system has worked to treat relapsing-remitting MS, but it doesnt protect from the eventual advancement to progressive MS, for which there arent any good treatments on the market, Norman Haughey, PhD, professor of neurology at the Johns Hopkins University School of Medicine and the studys senior author, said in a press release.

Now, a team led by researchers at Johns Hopkins suggested that the use of certain compounds may be able to prevent RRMS from evolving to SPMS.

In previous studies, the team analyzed the composition of the myelin surrounding nerves near injury sites in the brain tissue of cadavers with MS. Compared with other nerves, these looked misshapen and had higher levels of ceramide and lower levels of sulfatide both lipid (fat) molecules.

Ceramide plays a role in MS by regulating the curvature and compaction of myelin. However, when in excess, it can form bumps on the surface of myelin preventing it from wrapping tightly around nerves.

In the new study, the team analyzed modifications in the lipid composition of myelin following remyelination in cuprizone-treated mice a mouse model of MS in which myelin loss and oligodendrocyte destruction are caused by the toxic agent cuprizone. Cuprizone was given to the mice through their diet for 26 days.

The results showed that the myelin was able to repair itself, although the increase of ceramide produced a disorganized and decompacted myelin structure. The researchers believe the overproduction of ceramide during remyelination is the result of the action of the enzyme nSMase2 that converts sphingomyelin to ceramide. nSMase2 is activated by brain inflammation.

Oligodendrocyte progenitor cells (OPCs) are activated and recruited to damaged sites following demyelination. These cells then differentiate into myelinating oligodendrocytes to repair denuded axons. For oligodendrocyte regeneration, inflammation is functionally important.

The scientists showed that inflammatory cytokines, namely tumor necrosis factor-alpha (TNF-alpha) and interleukin-1beta (IL-1beta), promote a protective and regenerative response in OPCs. However, that turns into a harmful response, promoting apoptosis (cell death) as the OPCs differentiate into oligodendrocytes.

Moreover, in experiments using antibodies (immunostaining), the researchers found that the response of OPCs and oligodendrocytes to inflammatory cytokines may be regulated by the nSMase2 enzyme. Through further investigation, the team found that the expression of nSMase2 modifies the cellular response to inflammatory cytokines such as TNF-alpha.

Our findings suggest that expression of nSMase2 modifies the cellular response to inflammation, from being protective in OPCs (when nSMase2 is not expressed) to damaging in myelinating oligodendrocytes, the researchers wrote.

The team then assessed whether pharmacological inhibition of nSMase2 protected myelinated axons. This was done by testing cambinol, a compound that blocks nSMase, in the cuprizone mouse model. The results showed that blocking nSMase2 prevented the increased production of ceramide and its incorporation in regenerated myelin.

Next, the researchers determined whether inhibition of nSMase2 during the remyelination process modified the lipid content of myelin. The mice were fed a cuprizone-containing diet for 28 days, to induce myelin damage. This was followed by cambinol for 28 days, after which the mice were returned to a normal diet.

Cambinol treatment caused the myelin to grow back tightly around the nerve cells; the myelin produced appeared as it did before the cuprizone-induced damage. The treatment did not completely restore the lipid composition of myelin, but appeared to increase its stability protecting neurons, the team noted.

Finally, genetic deletion of nSMase2 in myelinating oligodendrocytes also was found to normalize the amount of ceramide and increase the thickness and compaction of myelin, thus stabilizing the structure of remyelinated axons.

Pharmacological inhibition or genetic deletion of nSMase2 in myelinating oligodendrocytes normalized the ceramide content of remyelinated fibers and increased thickness and compaction. These results suggest that inhibition of nSMase2 could improve the quality of myelin and stabilize structure, the researchers wrote, adding that amore stable myelin structure is likely to be less susceptible to secondary demyelination.

We think these findings are a big step toward improving the quality and composition of myelin following a flare-up, Haughey said.

The team now plans to determine the impacts of other abnormal lipid levels, apart from ceramide, and determine if myelin maintains its function when returned to its correct structure. After this, the researchers hope it will be possible to consider inhibitors of nSMase2 for use in human trials.

Diana holds a PhD in Biomedical Sciences, with specialization in genetics, from Universidade Nova de Lisboa, Portugal. Her work has been focused on enzyme function, human genetics and drug metabolism.

Total Posts: 1,053

Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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Better Repair of Nerve Insulation May Lead to New MS Treatments - Multiple Sclerosis News Today

In the first wave of the coronavirus disease 2019 pandemic, patients with axial spondyloarthritis, rheumatoid arthritis, and psoriatic arthritis didnt have an increase in disease activity despite an interruption in in-person interactions.

During the first wave of the coronavirus disease 2019 (COVID-19) pandemic, patients with axial spondyloarthritis (axSpA), rheumatoid arthritis (RA), and psoriatic arthritis (PsA) didnt see any increase in disease activity despite an interruption in in-person interactions, according to research published in Annals of Rheumatic Diseases.

The researchers analyzed patients in the Swiss Clinical Quality Management cohort to understand how partial or complete closure of rheumatology services impacted disease activity as remote consultations were used to partly compensate for the reduced in-person interaction.

Additional factors may also potentially contribute to disease worsening during the pandemic, the authors explained. Some patients may choose to preventively stop immunosuppression out of fear of complications. Moreover, the psychological stress (anxiety about a new disease, economic pressure, less recreational opportunities and so on) encountered during the pandemic should not be underestimated.

The researchers defined 3 study periods: a preCOVID-19 phase from January 1 to February 29, 2020; a COVID-19 phase from March 1 to April 30, 2020; and a postCOVID-19 phase from May 1 to June 30, 2020. Patients who had at least 1 patient-reported disease activity measure in each of the study periods were included.

A few disease activity assessments were used: the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) for axSpA; the Rheumatoid Arthritis Disease Activity Index-5 (RADAI-5) in RA; and the Patient Global Assessment (PGA) visual analogue scale for disease activity in PsA. The researchers used the following to define a clinically important worsening:

The study looked at 287 patients with axSpA, 248 with RA, and 131 with PsA. The number of visits dropped 52% from 543 in February to 262 in April; however, there was a 129% increase in web-based application entries (521 to 1195) during this time.

In the preCOVID-19 phase, 15% of patients were nonadherent to their medication. While there was a slight increase in nonadherence during the COVID-19 phase, the researchers noted the increase only reached statistical significance among patients with axSpA.

Adherence returned to prepandemic levels in the postCOVID-19 phase, they wrote.

Over the first half of 2020, patient-reported disease activity outcomes were stable. There was a slight decrease during the COVID-19 phase; the decrease was only statistically significant for patients with axSpA (mean BASDAI 3.40 before the pandemic and 3.23 during the pandemic; P = .02). There was disease flare in less than 15% of patients for all 3 diseases, which was not statistically different from the preCOVID-19 phase.

The authors noted that the fact they could only evaluate patients with regular disease activity assessments was a limitation.

This subset using the smartphone app is probably more invested in disease management and the non-compliance figures might be under-represented, they wrote.

Reference

Ciurea A, Papagiannoulis E, Brki K, et al. Impact of the COVID-19 pandemic on the disease course of patients with inflammatory rheumatic diseases: results from the Swiss Clinical Quality Management cohort. Ann Rheum Dis. Published online September 22, 2020. doi:10.1136/annrheumdis-2020-218705

Read more from the original source:
Interruptions to In-Person Visits During Pandemic Did Not Negatively Impact Patients With Inflammatory Arthritis - AJMC.com Managed Markets Network

I harassed my GP enough to get it caught early

Meet Georgie.

At age 26, Georgie was diagnosed with rheumatoid arthritis, an autoimmune inflammatory condition that affects up to1% of the population worldwide.

Suffering from such incredible pain every morning that stopped her from doing simple things like getting dressed or brushing her teeth, Georgie sought help. And refused to stop until she got answers.

What we can learn from Georgies story

Georgies story is a positive one, one where the short time to diagnosis (23 months) meant that the disease was caught and treated early, causing minimal damage to her joints. So what contributed to this?

On the one hand, time-lags between initial symptoms and diagnosis for rheumatoid arthritis have universally decreased in recent years (egfrom 24 months in 20002002 to 6 months in 20092011). Key to this has probably been a shift in clinicians knowledge of the disease and the motivation to treat likely tied to their beliefs about the consequences of the disease and the impact of early diagnosis.

At the same time, patient empowerment remains an integral driver to accelerating diagnosis and treatment.

And Georgie is a great example of a patient who empowered herself by asserting her interests.

She had an awareness of her own body and what is normal. So when her doctors initially sent her home, she didnt give up within 2 weeks, she was back, asking for answers. When the blood tests came back normal, she wasnt demoralised. Her awareness, together with the desire to live pain-free, gave her the motivation and confidence to assert her interests in her interactions with healthcare professionals and persist until a referral and diagnosis were reached.

But she shouldnt have to empower herself

Georgies success comes from being assertive and not all patients will be. So what about them? Will they end up with a delayed diagnosis and the consequent joint damage that goes with it?

Communication is key here; and both parties need to be involved. The environment has to engage patients and give them the knowledge, confidence and skills they need to be active players in their care. Which will be necessary to bridgethe gap between patients and doctors and enable them to share the knowledge they each have and help them make informed mutual decisions.

Clearly great strides have been made in rheumatoid arthritis. But we cant pause now; by looking at stories like Georgies, we have to keep assessing the gaps and continuously evolve the environment.

See more here:
The other side of rheumatoid arthritis - PMLiVE

DelveInsight's Rheumatoid Arthritis report states that the therapeutic market is expected to grow because of the launch of emerging drugs in the pipeline however the growth during the forecast period will be dampened because of the entry of biosimilars of blockbuster drugs

LAS VEGAS, Oct. 29, 2020 /PRNewswire/ -- The Rheumatoid Arthritis market report delivers an in-depth understanding of the Rheumatoid Arthritis, historical and forecasted epidemiology as well as the Rheumatoid Arthritis market trends in the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan for the study period of 2017-2030.

Few of the key highlights from the report:

The Biologics segment holds the highest share in the market in terms of revenue; its approximately 90% of the market share. Among the biologics, its anti-TNFs (~68%) have captured the major portion of the market owing to well-established efficacy, safety profile, physicians familiarities, and their long presence in the market. Among the anti-TNFs, etanercept and adalimumab were holding around 50% of the total in the 7MM market share in 2017.

Among the currently approved advanced classes, the growth of anti-TNF, T cell inhibitor, and B cell Inhibitor are expected to be relatively flat mainly due to the entry of biosimilars which ultimately leads to erosion of sales value.

As per DelveInsight's analysts the JAK inhibitor class expected to grow with a significant CAGR during the forecast period owing to market penetration of already approved products, entry and adoption of emerging drugs, and increase in physicians familiarities, and placing of JAK as a treatment option in the first line.

The Biosimilars started entering the United States and EU (i.e. Remicade biosimilars) and due to this sales value has started declining and the impact will be more pronounced when biosimilars/ generics of some blockbuster drugs like Humira (i.e. 2023 in the US), Xeljanz (i.e. 2025 in the US) will going to hit into the market and this will impact the growth of RA market significantly.

Among the recently launched and upcoming therapies, upadacitinib and filgotinib have the potential to impact the market owing to more selective oral JAK1 inhibitors and better clinical profile compared to already approved JAKi. Although upadacitinib will have a slight edge over filgotinib owing to order of entry, slightly better efficacy data, and recent FDA rejection of filgotinib.

To know how the trends will be impacting the market, click on the link to download the sample: https://www.delveinsight.com/sample-request/rheumatoid-arthritis-ra-market

Story continues

Rheumatoid arthritis (RA) is a chronic, progressive, inflammatory autoimmune disease and is characterized by chronic pain and joint destruction that usually progress from distal to more proximal joints. Even after years of research, the cause of rheumatoid arthritis is still unknown. Rheumatoid Arthritis symptoms include joint pain, stiffness, swelling, and decreased movement of the joints. Rheumatoid arthritis diagnosis is done by a combination of patient's symptoms, results of doctor's examination, assessment of risk factors, family history, a joint assessment by ultrasound sonography, and assessment of laboratory markers such as elevated levels of CRP and ESR in serum and detection of Rheumatoid Arthritis -specific autoantibodies. Rheumatoid Arthritis has a predilection to affect women, that's why the incidence and prevalence rates in women for RA is 2- 3 times more as compared to men. The total prevalent cases of Rheumatoid Arthritis in the 7MM were observed to be 4,356,793 in 2017 which are estimated to rise during the study period (20172030). The United States accounted for the highest number of cases in the 7MM.

The report provides an in-depth historical and forecasted analysis of Rheumatoid Arthritis Epidemiology segmented by:

Total Prevalent Cases

Total Diagnosed Prevalent Cases

Gender-specific Prevalent Cases

Age-specific Prevalent Cases

Severity-specific Prevalent Cases

Patients on targeted therapies

Line-Wise Treated Cases

Rheumatoid Arthritis Treatment Market

The Rheumatoid Arthritis treatment paradigm includes medicine, supportive treatment and surgery. Currently, there are three primary treatment options for severe and advancing Rheumatoid Arthritis which include DMARDs, NSAIDs, and corticosteroids. Rheumatoid market consists of many different drug target agents forming different drug classes. Conventional DMARDs are a group of drugs (i.e. methotrexate, leflunomide, hydroxychloroquine, sulfasalazine) that have been shown to affect the underlying cause of RA by damping down over-activity of the immune system, which helps to ease pain, swelling and stiffness, and prevent changes occurring within the joint. Among csDMARDS, methotrexate (MTX) is considered as a part of the first treatment strategy. MTX remains the anchor drug in RA; along with usage as monotherapy, it is also the basis for combination therapies, either with GC or with other csDMARDs, bDMARDs or tsDMARDs.Patients refractory to csDMARDS or with severe symptoms usually treated with a wide variety of biologics DMARDs classes like anti-TNF, T cell inhibitor, B cell Inhibitor, Interleukin Inhibitors and targeted synthetic DMARDs like JAK Inhibitors. The drug classes include blockbusters Anti-TNF (Etanercept, Infliximab, Adalimumab, Certolizumab-pegol) JAK inhibitors (tofa citinib, baricitinib, upadacitinib, Peficitinob) B-cell inhibitors (Rituximab), Interleukin Inhibitors (Tocilizumab, Sarilumab), T-cell inhibitors (Abatacept), DMARDs, other novel inhibitors, etc.

Biological DMARDs showed promising results in treating RA patients and market penetration is expected to be more in the future and this class is expected to drive the growth of the market. Oral classes such as JAKi and upcoming BTKi due to patient convenient RoA are also expected to contribute to the Rheumatoid Arthritis market growth. The market for Rheumatoid Arthritis possesses fierce competition but still, there is a high demand for new therapies having similar or better efficacy, however, improved safety profile as well as patient adherence. Because of high competition, the new entrants are expected to be met with some resistance and will experience slow uptake, as the market is currently dominated by the anti-TNFs and entry of biosimilars will further pose significant challenges to new and upcoming treatment. It goes without saying that the dynamics of the Rheumatoid Arthritis market is expected to change because of the launch of emerging therapies, companies like GlaxoSmithKline [Otilimab (MOR103/GSK3196165)], Taisho Pharmaceutical [Ozoralizumab (TS-152)], Gilead and Galapagos NV [Filgotinib (GS-6034; Jyseleca)], and R-Pharm (Olokizumab) with their key candidates are in registrational or late clinical-stage. In addition to this, companies like Merck KGaA (Evobrutinib), Pfizer (PF-06650833, and PF-06651600), Roche (Fenebrutinib), and several others in phase II clinical development stage with their investigational candidates.

As many potential therapies are being investigated for the management of Rheumatoid Arthritis, it is for sure that the treatment space will experience a significant impact during the forecast period of 20202030.

As the emerging drugs will be entering the market, to know what will be their impact on the existing market, which drug will be a blockbuster, and for which line of treatment these drugs will be used? Download the RA Report to know more:- https://www.delveinsight.com/report-store/rheumatoid-arthritis-ra-market

Scope of the Report

Geography Covered: 7MM - The United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), Japan.

Study Period: 3-year historical and 11-year forecasted analysis (2017-2030).

Markets Segmentation: By Geographies, By Therapies (Forecasted + Historical).

Companies Covered: GlaxoSmithKline, Gilead, Galapagos NV, R-Pharm, Taisho Pharmaceuticals, Aclaris Therapeutics, Viela Bio, Bristol Myers Squibb, AbbVie, Pfizer, Philogen, Akros Pharma, Japan Tobacco, Merck KGaA, Genentech, Mesoblast, UCB Pharma, PRA HEALTH SCIENCES, Izana Bioscience, Takeda, Abivax S.A, Hope Biosciences, Genosco (Oscotec) and several others.

Analysis: Comparative and conjoint analysis of emerging therapies, Attribute Analysis

Market trends, pipeline analysis across different stages of development (Phase III and Phase II), and market size by therapies.

Tools used such as SWOT analysis, Porter's Five Forces, PESTLE analysis, BCG Matrix analysis methods.

Case Studies

KOL's Views

Analyst's View

Table of Contents

1. Key Insights

2. Executive Summary of Rheumatoid Arthritis

3. SWOT Analysis of Rheumatoid Arthritis

4. Rheumatoid Arthritis Market Share (%) Distribution Overview at a Glance: By Country

5. Rheumatoid Arthritis Market Share (%) Distribution Overview at a Glance: By Class

6. Rheumatoid Arthritis Disease Background and Overview

7. Rheumatoid Arthritis Epidemiology and Patient Population

8. Rheumatoid Arthritis Epidemiology Scenario: 7MM

9. The United States Rheumatoid Arthritis Epidemiology

10. EU-5 Rheumatoid Arthritis Epidemiology

10.1. Germany

10.2. France

10.3. Italy

10.4. Spain

10.5. The United Kingdom

11. Japan Rheumatoid Arthritis Epidemiology

12. Current Rheumatoid Arthritis Treatment Practices

12.1. Medications

12.2. Supportive Treatment

12.3. Surgery

12.4. Treatment Algorithm

12.5. Guideline of Rheumatoid Arthritis

13. Unmet Needs

14. Patient Journey of Rheumatoid Arthritis

15. Key Endpoints in Rheumatoid Arthritis Clinical Trials

16. Rheumatoid Arthritis Marketed Therapies

16.1. Marketed Therapies Key Cross

16.2. Olumiant (Barticinib): Eli Lilly and Company/Incyte Corporation

16.3. Rinvoq (Upadacitinib): AbbVie

16.4. Xeljanz (Tofacitinib): Pfizer/PV PRISM CV

16.5. Remicade (Infliximab): Janssen Biotech (Centocor)

16.6. Enbrel (Etanercept): Immunex/Amgen

16.7. Rituxan/MabThera (Rituximab): Genentech/Biogen

16.8. Certolizumab-pegol (Cimzia): UCB Inc.

16.9. Golimumab (Simponi): Janssen Biotech

16.10. Humira (adalimumab): AbbVie

16.11. Orencia (Abatacept): Bristol Myers Squibb

16.12. Smyraf (Peficitinib): Astella Pharma

16.13. Actemra (Tocilizumab): Roche

16.14. Kineret (Anakinra): Swedish Orphan Biovitrium (SOBI)

16.15. Kevzara (Sarilumab): Regeneron and Sanofi

17. Rheumatoid Arthritis Emerging Therapies

17.1. Key Cross

17.2. GSK3196165 (otilimab/MOR103): GlaxoSmithKline

17.3. Filgotinib (GS-6034; GLPG0634; Jyseleca): Gilead and Galapagos NV

17.4. Olokizumab: R-Pharm

17.5. TS-152 (Ozoralizumab): Taisho Pharmaceuticals

17.6. ATI-450 (CDD-450): Aclaris Therapeutics

17.7. VIB4920: Viela Bio

17.8. Branebrutinib: Bristol Myers Squibb

17.9. ABBV-3373 and ABBV-154: AbbVie

17.10. Dekavil (F8IL10): Pfizer/Philogen

17.11. PF-06651600 (Ritlecitinib): Pfizer

17.12. JTE 051: Akros Pharma/Japan Tobacco

17.13. Evobrutinib (M2951): Merck KGaA

17.14. PF-06650833: Pfizer

17.15. Fenebrutinib (GDC-0853, RG7845): Genentech (subsidiary of Roche)

17.16. MPC-300-IV (Allogeneic Mesenchymal Precursor Cells): Mesoblast

17.17. Bimekizumab: UCB Pharma/PRA HEALTH SCIENCES

17.18. Namilumab (IZN-101; AMG203): Izana Bioscience/Takeda

17.19. ABX464: Abivax S.A.

17.20. HB-AdMSCs: Hope Biosciences

17.21. SKI-O-703: Genosco (Oscotec)

18. Conjoint Analysis of Rheumatoid Arthritis

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Rheumatoid Arthritis Market expected to increase with a decent CAGR of approx. 3% during the study period 2017-30 - Yahoo Finance

Anterior cruciate ligament, or ACL, injuries are one of the most common types of knee injury and occur particularly in athletes or people who exercise and play sport regularly. ACL injuries can be treated surgically or non-surgically, depending on the patient, but may lead to an increased risk of osteoarthritis in later life. A new study, published in October 2020 in Scientific Reports, suggests that production of a certain protein in the knee joint following ACL injury may indicate an increased risk of osteoarthritis in future, allowing clinicians to better predict and treat this condition at an earlier stage.

What is ACL injury?

The ACL is one of the ligaments in the knee, and helps to move the joint back and forward. It is most commonly injured during running or playing sport: injuries to the ACL are known as sprains or tears. They can range from being mild, where the ligament is just stretched, to severe, where it is completely torn in two.

Patients may become aware of their knee making a popping noise, suddenly giving way, being painful, swelling and/or not moving properly. ACL injury can usually be diagnosed on examination by a doctor, but imaging may be required to ascertain the severity of the injury.

Treatment of ACL injury

If the patient wishes to return to full mobility, ACL injuries tend to require surgery as the ligament cannot repair itself. This can usually be done via arthroscopy (commonly known as keyhole surgery), which is less invasive and has a quicker recovery time compared to open surgery. For some elderly or very inactive patients, who do not need to return to great knee mobility, surgery may not be required and they may be able to use a brace and/or have physiotherapy instead if the injury is not very severe.

ACL injury and osteoarthritis

Unfortunately, patients who suffer an ACL injury also have a higher risk of developing arthritis, and in particular osteoarthritis, in the knee as they grow older. Osteoarthritis, also known as wear-and-tear arthritis, is common in elderly people, and occurs when the surface of the joint wears away, causing pain, swelling and loss of mobility.

Osteoarthritis cannot be cured but can be treated and prevented from worsening through medications, lifestyle changes such as diet and exercise, and, in some cases, surgery.

The recent study in Scientific Reports has suggested that production of a specific protein that helps lubricate the knee joint may be a predictor of future arthritis in patients with ACL injury. The study was conducted on dogs that had suffered ACL injury but the protein, called lubricin, is present in healthy knee joints in all mammals, including humans. The results may therefore be useful in treating human patients as well, and further studies are taking place to confirm if this is the case.

The study found that levels of lubricin significantly increased in those dogs that had suffered an ACL tear, before any other signs of arthritis were detected. The researchers concluded that increased levels of this protein may therefore be a marker for predicting osteoarthritis earlier, thus allowing patients to seek treatment more promptly and to make the lifestyle changes that could prevent their osteoarthritis from deteriorating.

This study is an encouraging example of how research can aid the development of treatment for common injuries and prevent subsequent and damaging side-effects later on in life.

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ACL injury and osteoarthritis: causes, symptoms and treatment - Lexology