StemCell Therapy

A team led by Case Western Reserve University medical researchers has developed a potential treatment method for Pelizaeus-Merzbacher disease (PMD), a fatal neurological disorder that produces severe movement, motor and cognitive dysfunction in children. It results from genetic mutations that prevent the body from properly making myelin, the protective insulation around nerve cells.

Paul Tesar, professor of genetics and genome sciences, School of Medicine

Using mouse models, the researchers identified and validated a new treatment target-a toxic protein resulting from the genetic mutation. Next, they successfully used a family of drugs known as ASOs (antisense oligonucleotides) to target the ribonucleic acid (RNA) strands that created the abnormal protein to stop its production. This treatment reduced PMDs hallmark symptoms and extended lifespan, establishing the clinical potential of this approach.

By demonstrating effective delivery of the ASOs to myelin-producing cells in the nervous system, researchers raised the prospect for using this method to treat other myelin disorders that result from dysfunction within these cells, including multiple sclerosis (MS).

Their research was published online July 1 in the journal Nature.

The pre-clinical results were profound. PMD mouse models that typically die within a few weeks of birth were able to live a full lifespan after treatment, said Paul Tesar, principal investigator on the research, a professor in the Department of Genetics and Genome Sciences at the School of Medicine and the Dr. Donald and Ruth Weber Goodman Professor of Innovative Therapeutics. Our results open the door for the development of the first treatment for PMD as well as a new therapeutic approach for other myelin disorders.

Study co-authors include an interdisciplinary team of researchers from the medical school, Ionis Pharmaceuticals Inc., a Carlsbad, California-based pioneer developer of RNA-targeted therapies, and Cleveland Clinic. First author Matthew Elitt worked in Tesars lab as a Case Western Reserve medical and graduate student.

PMD is a rare, genetic condition involving the brain and spinal cord that primarily affects boys. Symptoms can appear in early infancy and begin with jerky eye movements and abnormal head movements. Over time, children develop severe muscle weakness and stiffness, cognitive dysfunction, difficulty walking and fail to reach developmental milestones such as speaking. The disease cuts short life-expectancy, and people with the most severe cases die in childhood.

The disease results from errors in a gene called proteolipid protein 1 (PLP1). Normally, this gene produces proteolipid protein (PLP) a major component of myelin, which wraps and insulates nerve fibers to allow proper transmission of electrical signals in the nervous system. But a faulty PLP1 gene produces toxic proteins that kill myelin producing cells and prevent myelin from developing and functioning properly-resulting in the severe neurological dysfunction in PMD patients.

PMD impacts a few thousand people around the world. So far, no therapy has lessened symptoms or extended lifespans.

For nearly a decade, Tesar and his team have worked to better understand and develop new therapies for myelin disorders. They have had a series of successes, and their myelin-regenerating drugs for MS are now in commercial development.

In the current laboratory work, the researchers found that suppressing mutant PLP1 and its toxic protein restored myelin-producing cells, produced functioning myelin, reduced disease symptoms and extended lifespans.

After validating that PLP1 was their therapeutic target, the researchers pursued pre-clinical treatment options. They knew mutations in the PLP1 gene produced faulty RNA strands that, in turn, created the toxic PLP protein.

Additional team members included Lilianne Barbar, Elizabeth Shick, Yuka Maeno-Hikichi, Mayur Madhavan, Kevin Allan, Baraa Nawash, Artur Gevorgyan, Stevephen Hung, Zachary Nevin, Hannah Olsen, Daniela Schlatzer, David LePage, Weihong Jiang and Ronald Conlon from Case Western Reserve University School of Medicine; Berit Powers, Hien Zhao, Adam Swayze and Frank Rigo from Ionis Pharmaceuticals; and Midori Hitomi from Cleveland Clinic.

This research was supported by grants from the National Institutes of Health, New York Stem Cell Foundation and European Leukodystrophy Association. Philanthropic support was provided by the Geller, Goodman, Fakhouri, Long, Matreyak, Peterson and Weidenthal families and the CWRU Research Institute for Childrens Health.

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Case Western Reserve University-led team develops new approach to treat certain neurological diseases - Mirage News

Global Personalized Cancer Drugs Market: Snapshot

Genetic sequencing has proven that no two cancer cases are absolutely identical, heavily depending on genetic profiles of the patients, which defines their immunity power. But frequently, several promising pipeline drugs fail to reach the market for not being commonly useful for the masses. In this scenario, a small but increasing number of personalized cancer drugs are allowed by the FDA for the treatment of particular mutations. Nearly one third of cancer drugs are prescribed off-label, as it provides help to the patients immediately. These targeted agents are directed at specific molecular feature of the cancer cells and hence produce greater effectiveness with significantly less toxicity.

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The global market for personalized cancer drugs market is gaining traction from increased government support for precision-medicine. For example, in June 2016, the U.S. National Cancer Institutes revealed its plans to enroll thousand patients in a trial called NCI-MATCH, which is aimed at matching patients to twenty possible compounds on the basis of their genetic abnormalities. Along the similar lines, The American Society of Clinical Oncology has also announced a registry termed as TAPUR, collecting data on the fate of patients who receive personalized cancer drugs off-label.

Another factor driving the global personalized cancer drugs market is the falling cost of genetic sequencing, which is enabling the quick approval of drugs for off-label clinical trials on patients in need across the world.

Personalized Cancer Drugs Market: Overview

Personalized drugs, or customized drugs, are tailored to suit the needs of individual patients. Earlier, various patients suffering from the same type of disease were given the similar treatment plan. However, it became evident to physicians that a particular treatment worked differently for different patients, mainly owing to a varied genetic makeup. The concept of personalized medicine is based on the analysis of etiology of disease in individual patients and offers treatment that is more efficient, predictable, and precise.

Cancer is a common chronic disease and a major cause of fatality around the globe. The development of personalized cancer drugs has gained pace as they have relatively fewer side effects compared to standard drugs. Personalized cancer drugs target a specific protein or gene responsible for the growth and survival of a cancer type.

Personalized Cancer Drugs Market: Trends and Opportunities

The personalized cancer drugs market is primarily fueled by the rising prevalence of various cancer types such as lung cancer, breast cancer, prostate cancer, melanoma and leukemia, and colorectal cancer. According to the Surveillance, Epidemiology, and End Results Program sponsored by the National Cancer Institute (NCI), an estimated 13,397,159 people in the United States were affected with various cancer types in 2011. Moreover, in 2014, around 1,666,540 new cancer cases were diagnosed in the country, with nearly 585,720 deaths resulting from cancer. The personalized cancer drugs market is also driven by several advantages associated with this new treatment therapy and ongoing developments in the field of genetic science.

On the flip side, high cost associated with the genetic testing of patients and tumor samples may serve as a growth restraint on the market for personalized cancer drugs. In addition to this, the lack of insurance plans to cover these tests in developing nations of Asia Pacific and Rest of the World hampers the market to some extent. This can be attributed to low per capita income and poor reimbursement scenario.

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Personalized Cancer Drugs Market: Geographical Assessment

From a geographical perspective, the personalized cancer drugs market has been broadly segmented into Europe, Asia Pacific, North America, and Rest of the World (RoW). The market for personalized cancer drugs is led by North America. The chief factors responsible for the regions lead position are aggressive research and development activities, technical advancements, higher affordability for expensive treatments and therapies, and greater healthcare awareness. Europe is also a key market for personalized cancer drugs owing to significant funding from several governments and the growing penetration by U.S.-based companies.

Asia Pacific holds immense promise for players in the personalized cancer drugs market, powered mainly by Japan. The regional market is likely to be fueled by the presence of a large pool of cancer patients and improving healthcare infrastructure. The growth of the APAC personalized cancer market can also be attributed to the rapidly evolving medical tourism industry. In the RoW segment, Mexico, Brazil, Russia, and South Africa represent potential markets.

Personalized Cancer Drugs Market: Competitive Landscape

Some of the key players competing in the personalized cancer drugs market are F. Hoffmann-La Roche Ltd., Pfizer Ltd., Cell Therapeutics, Inc., H3 Biomedicine, Inc., bioTheranostics, GlaxoSmithKline, and Abbott Laboratories. Zelboraf (vemurafenib) by F. Hoffmann-La Roche Ltd. and Xalkori (crizotinib) by Pfizer Ltd. are some notable targeted drugs for the treatment of cancer.

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Personalized Cancer Drugs Market Expected to Witness a Sustainable Growth over 2025 - 3rd Watch News

SOUTH SAN FRANCISCO, Calif., July 1, 2020 /PRNewswire/ --Genome Medical, a leading telegenomics technology and services company democratizing access to genomic-based medicine, today announced that it has raised $14 million to expand its clinical genetics care and operations. The funds will specifically support the accelerated development of the Genome Care DeliveryTM technology platform to address the rapid growth in virtual care needs and the shortage of genomic health care experts. Genome Medical will initially expand its patient engagement and care navigation platform for cancer, reproductive health and pharmacogenomics to bring the benefits of genomic medicine to a wider U.S. population.

This Series B extension financing was led by Samsung Catalyst Fund, which invests in the tech leaders of tomorrow to build a safer, smarter and more sustainable world. Existing investors, founders and additional growth partners also participated in this financing, bringing the total capital raised since Genome Medical was founded in 2016 to $60 million.

"The global COVID-19 pandemic and its health care impact are creating an unprecedented need for telehealth solutions. As a nationwide telehealth medical practice, Genome Medical is able to meet this need by expanding access to standard-of-care genetics and genomics through virtual health services -- reaching people everywhere in a timely and safe manner," said Lisa Alderson, CEO and Co-founder of Genome Medical. "We are pleased to partner with Samsung Catalyst Fund to forge consumer digital health technology together with genomic data and clinical genetics expertise to transform health care."

Advancements in genetic technology and testing have made preventive and personalized care more effective and affordable than ever, accelerating the adoption of precision medicine into routine clinical care for cancer, chronic diseases, reproductive health and genetic disorders. Importantly, these advancements also create new ways to monitor and treat infectious diseases and global outbreaks.

"Personalized medicine is the future of care, but too many health systems are not able to provide these critical services," said Francis Ho, Senior Vice President and Managing Director, Samsung Catalyst Fund. "When more patients and providers have access to cutting-edge genomic health technologies and expertise, we can save lives and improve health outcomes. The data and knowledge base built by Genome Medical will spur more innovation and help us focus on preventive methods for treating illnesses and new diseases. Samsung is excited to be a part of this journey."

Genome Medical's solutions are utilized by health systems, hospitals, payors, providers and employers to expand access to genetic health services. Genome Medical also services patients directly and accepts self-referrals. Approximately 17 percent of the population carries disease-related genetic mutations for which there are treatment or preventive options. By increasing access to genetics care, Genome Medical can directly improve outcomes for these individuals.

Genome Medical's growing network of genetic specialists provides on-demand, virtual care nationwide in the United States, with deep expertise across six major clinical areas: cancer, cardiovascular disease, reproductive health, pediatric genetics, pharmacogenomics and proactive health management. The Genome Care Delivery platform delivers education, engagement and provider-to-provider e-consults, as well as genetic wellness assessments and screening for population health management. The outcomes from this platform will make genomic medicine more affordable and accessible by providing the most up-to-date research and data-driven expertise. This includes a proprietary database to securely collect data on genomic profiles, electronic medical records, family health history and clinical insights.

Genome Medical's existing investors, founders and additional growth partners also participating in this financing included Chairman and Co-founder Randy Scott, Canaan Partners, Illumina Ventures, Echo Health Ventures, Perceptive Advisors, LRVHealth, Kaiser Permanente Ventures, Avestria Ventures, Casdin Capital, HealthInvest Equity Partners, Revelation Partners, Dreamers Fund, Flywheel Ventures and Manatt Ventures.

About Genome Medical Genome Medical is a national telegenomics technology, services and strategy company bringing genomic medicine to everyday care. Through our nationwide network of genetic specialists and efficient Genome Care DeliveryTM technology platform, we provide expert virtual genetic care for individuals and their families to improve health and well-being. We also help health care providers and their patients navigate the rapidly expanding field of genetics and utilize test results to understand the risk for disease, accelerate disease diagnosis, make informed treatment decisions and lower the cost of care. We are shepherding in a new era of genomic medicine by creating easy, efficient access to top genetic experts. Genome Medical is headquartered in South San Francisco. To learn more, visit genomemedical.comand follow @GenomeMed.

About Samsung Catalyst Fund Samsung Catalyst Fund is Samsung Electronics' evergreen multi-stage venture capital fund that invests in the new data economy and strategic ideas for Samsung's device solutions, mobile, and consumer electronics groups. Investments span across Mobile & Cloud Services, DeepTech Infrastructure, Biology + Tech, and Safety & Security. Through Samsung Catalyst Fund, entrepreneurs are enabled by Samsung's global brand, manufacturing and distribution, domain expertise, recruiting network, and world-class Innovation Fellows for advice and mentorship. For the latest news, please visit samsungcatalyst.com.

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Genome Medical Raises $14 Million to Expand Virtual Clinical Genetics Care and Accelerate Telemedicine Technology Development - BioSpace

The last known members of the Indigenous Beothuk people of Newfoundland were thought to have died out 200 years ago. But genes from these people have been found in a man living in Tennessee today, researchers reported.

Shanawdithit, a Beothuk woman who died of tuberculosis in 1829, was the last known Beothuk. The group had thrived in Newfoundland with as many as 2,000 people there, until the Europeans arrived in the early 1500s, bringing disease and pushing the Beothuk inland, away from their traditional fishing and hunting grounds, which led to their starvation.

However, even though the Beothuk culture is extinct, their genes are not. The new genetic study found "identical" Beothuk genes from Shanawdithit's uncle in a Tennessee man. They also found fairly-well matched genetic sequences in members of the modern-day Ojibwe (also known as the Chippewa) people, said study researcher Steven Carr, a professor of biology at Memorial University in Newfoundland, with a cross-appointment in population genetics with the university's Faculty of Medicine.

Related: 10 things we learned about the first Americans in 2018

The idea that the Beothuk live on isn't surprising to other Indigenous groups from the Newfoundland region. For instance, the oral traditions of Mi'kmaq First Nation (also spelled Miawpukek First Nation), a group whose history and geography overlap with that of the Beothuk, hold that Beothuk descendants have survived through the ages.

Carr conducted the study, in part, because "everybody wonders what happened to the Beothuk," he said. "There are people that claim descent from the Beothuk Indians," even though they don't have evidence to support such family ties. For instance, in 2017, a woman in North Carolina claimed to be of Beothuk descent after a commercial ancestry company, using incomplete data, mistakenly suggested this ancestry, according to the Canadian Broadcasting Corporation.

In an earlier study, published in 2017 in the journal Current Biology, researchers reported no close genetic relationship among three First Nation groups in Newfoundland: the Maritime Archaic, who lived in Newfoundland from about 8,000 to 3,400 years ago before mysteriously disappearing; the Palaeoeskimo, who visited and then lived on Newfoundland from about 3,800 to 1,000 years ago, meaning that they overlapped with the Maritime Archaic and the Beothuk; and the Beothuk, who lived on Newfoundland from about 2,000 to 200 years ago.

In the new study, published April 13 in the journal Genome, Carr reanalyzed already published genetic data from the Beothuk. In a nutshell, he looked at mitochondrial DNA (genetic data passed down from mothers to children) taken from the archaeological remains of 18 Beothuk individuals and the skulls of Shanawdithit's aunt and uncle, Demasduit and Nonosabasut, respectively. (These skulls had been stolen in 1828 and sent to the University of Edinburgh, but were repatriated to Newfoundland in March after a long campaign by the Mi'kmaq and other Indigenous groups, according to The Guardian.)

Carr searched for matches to the Beothuk mitochondrial DNA in GenBank, a database run by the U.S. National Institutes of Health that is chock-full of DNA sequences from research projects done around the world, as well as from people who use commercial DNA testing.

The search showed that a Tennessee man had mitochondrial DNA matching Nonosabasut, Carr said. The man told Carr he had traced his mother's side of the family five generations back, and he was surprised about his link to the Beothuk, as he wasn't aware of any First Nation relations in his genealogy tree.

"He's now extremely intrigued and will continue looking for that [First Nations link]," Carr said.

Just like in the Current Biology study, Carr found that the Maritime Archaic were not closely related to the Beothuk. However, the two groups do share a very distant ancestor; the oldest known Maritime Archaic individual who died at about the age of 12 in southern Labrador about 8,000 years ago, according to an analysis of the burial has DNA that is similar to the historic Beothuk, said William Fitzhugh, director of the Arctic Studies Center at the Smithsonian Institution, who was not involved with either study.

That's likely because the common ancestor of Indigenous Northeastern North America (except for the Innu and Innuit) date to at least 15,000 years ago, and the different groups that spread across this region likely descended from this ancestor, Carr said. However, the relationship between the Maritime Archaic and the Beothuk is distant, unlike the extremely close relation Carr found between the Beothuk and the Tennessee man.

Related: In images: An ancient long-headed woman reconstructed

The GenBank search also showed that the Beothuk and the ancient Maritime Archaic peoples from Newfoundland "both share ancestry with modern Canadian Ojibwe, meaning their genes can be traced back to ancestral Indian peoples in more geographically central regions [of Canada]," Fitzhugh told Live Science in an email.

However, the new study is limited by its sample size, Fitzhugh noted.

"One of my reactions is how complicated these DNA studies are and how dependent they are on available samples; that the technology of genomic analysis is relatively new and evolving rapidly, perhaps leading to different results," Fitzhugh said.

In an earlier study, Carr and colleagues looked for genetic links between the Beothuk and Mi'kmaq. But this 2017 study, published in the journal Mitochondrial DNA Part A, was small and the results were largely inconclusive, Carr said.

Despite these results, the study put them on the radar of Chief Mi'sel Joe of the Mi'kmaq First Nation. "The chief was interested in just having it demonstrated what they believed to be true," Carr said that the Mi'kmaq and the Beothuk had pursued "family relations" with one another before the Beothuk went culturally extinct, Joe told Live Science.

There is only one Mi'kmaq in GenBank, so next Carr plans to work with Mi'kmaq First Nation to determine whether the Beothuk and Mi'kmaq are closely related, he said. This new study will include at least 200 or more registered Mi'kmaq (also spelled Mig'maw) people, so it will be larger than the 2017 study, he noted. (Carr added that he is serving as the study's principal investigator and advisor to the Mi'kmaq in a private capacity, through his company Terra Nova Genomics. This project is being funded through a National Geographic Explorer grant to Mi'kmaq First Nation.)

The results from this study may help detail the historic relationship between the Beothuk and Mi'kmaq people.

"We shared the same island [of Newfoundland] and the island really is not that big," Joe said. "Of course, from time to time, our people would encounter them and sometimes live with them," Joe said. "It wasn't always friendly," because of rivalries, but other times it was, he said.

Originally published on Live Science.

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Genes from 'culturally extinct' Indigenous group discovered in unsuspecting Tennessee man - Livescience.com

Finding vaccines or drugs against COVID-19 is certainly one of the main current objectives of medical research centers worldwide. At Childrens National Medical Center, researchers are deploying technology tools from Amazon Web Services Inc. to combine hundreds of data sets to identify genes that might be targeted to treat many diseases, including COVID-19.

We know that there are a lot of drugs that target different genes,and we are particularly interested in, for example, can we repurpose some of these drugs to treatdifferent types of viruses, including COVID-19? said Wei Li (pictured), principal investigator at the Center for Genetic Medicine Research & Center for Cancer and Immunology Research at Childrens National Medical Center.

Li spoke with Stu Miniman, host of theCUBE, SiliconANGLE Medias livestreaming studio, during the AWS Public Sector Summit event. They discussed how the genome project can help combat COVID-19, as well as the role of AWS technology tools in scientific research. (* Disclosure below.)

The Childrens National Medical Center has been using computational biology and gene editing approaches to understand humangenome and disease, and it is particularly interested in a gene-editingtechnology called CRISPR screening, according to Li, who has a research background in computer science.

This is a fascinating technology because it tells you whether one of the 20,000human genes are connected with some certain disease phenotype in one single experiment, he said. We are tryingto, for example, perform machine-learning and data-mining approaches to find new clues of human diseasefrom the original mix and screening big data.

CRISPR screening and other similar screening methods have been widely used in recent years by several research laboratories to study virus infections, such as those related to HIV, Ebola, influenza and now coronavirus, according to Li. Then, the team at the Childrens National Medical Center had an idea: to connect all the sets of screening data related to these viruses to try to extract new information that cannot be identified in a single study.

Can we identify new patterns or new human genes that are commonly responsible for many different virus types? Or can we find some genes that work only from some certain type of viruses? he asked.

Researchers use AWS technology to process and analyze huge amount of data sets, in addition to creating an integrated database in the cloud, so that research results can be freely accessed around the world. It is estimated that AWS technology can reduce the time to process screening data from months to days, according to Li.

Two major benefits are expected from the outcome of this research project.

The first thing is that we hope to find some genes thatcan be potentially drug targets. So, if there are existing drugs that target the genes, then that would be perfect, because we dont need to do anything about this, he explained. And,in the end, we hope that these drugs can have the broad antiviral activity; that means that these drugs can be potentially used to treat COVID-19 and in the future if theres a new virus coming out.

Watch the complete video interview below, and be sure to check out more of SiliconANGLEs and theCUBEs coverage of the AWS Public Sector Summit event. (* Disclosure: TheCUBE is a paid media partner for the AWS Public Sector Summit Online event. Neither Amazon Web Services Inc., the sponsor for theCUBEs event coverage, nor other sponsors have editorial control over content on theCUBE or SiliconANGLE.)

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Children's National Medical Center and AWS partner for genome project targeting COVID-19 - SiliconANGLE

Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P<310-8) with age-of-onset. Forty-five variants had comparable effects on the onset of the three individual diseases and 38 were also associated with allergic disease case-control status in an independent study (n = 222,484). We observed a strong negative genetic correlation between age-of-onset and case-control status of allergic disease (rg = -0.63, P = 4.510-61), indicating that cases with early disease onset have a greater burden of allergy risk alleles than those with late disease onset. Subsequently, a multivariate GWAS of age-of-onset and case-control status identified a further 26 associations that were missed by the univariate analyses of age-of-onset or case-control status only. Collectively, of the 76 variants identified, 18 represent novel associations for allergic disease. We identified 81 likely target genes of the 76 associated variants based on information from expression quantitative trait loci (eQTL) and non-synonymous variants, of which we highlight ADAM15, FOSL2, TRIM8, BMPR2, CD200R1, PRKCQ, NOD2, SMAD4, ABCA7 and UBE2L3. Our results support the notion that early and late onset allergic disease have partly distinct genetic architectures, potentially explaining known differences in pathophysiology between individuals.

PubMed

Link:
Age-of-onset information helps identify 76 genetic variants associated with allergic disease. - Physician's Weekly

CAMBRIDGE, Mass., June 30, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the retirement of Sandy Mahatme, Sareptas executive vice president, chief financial officer and chief business officer, from the company effective July 10, 2020. The company has commenced a search process to identify the future chief financial officer. During the interim period, the finance and accounting functions will report directly to Sareptas Chief Executive Officer, Doug Ingram, and other departments reporting to Mr. Mahatme will be overseen by members of Sareptas executive committee.

The Sarepta from which Sandy retires is a very different one from the organization he joined as our chief financial officer some eight years ago. And the Sarepta of today a financially solid biotechnology organization with perhaps the industrys deepest and most valuable pipeline of genetic medicine candidates with the potential to extend and improve lives would not have been possible without Sandys business acumen and dedication, said Doug Ingram, president and chief executive officer, Sarepta Therapeutics. On behalf of our board of directors and the entire organization, I want to wish Sandy all the best in his next journey and thank him for his invaluable and numerous contributions to our success and for having built a strong team of finance leaders who will continue to perform as he departs.

Said Mr. Mahatme, It has been a privilege to serve as Sareptas CFO and CBO for almost eight years and to have participated in its remarkable transformation and extraordinary growth. Working with this leadership team and our talented colleagues, we have built a strong foundation for Sareptas ongoing success in achieving its goal of changing the lives of patients with rare diseases around the world. Having built a strong team of finance, IT, facilities, manufacturing and business development professionals, I feel confident that this is a good time to transition to other opportunities, knowing that Sarepta is well-positioned to continue to lead the industry.

Sandy will continue to serve on the Board of Directors for Flexion Therapeutics, Inc., Aeglea BioTherapeutics, Inc., and Idorsia Pharmaceuticals Ltd.

AboutSarepta TherapeuticsAt 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 Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Forward-Looking StatementThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the search process to identify the future chief financial officer, the reporting structure during the interim period and the performance of the finance team; Sareptas potential to extend and improve lives; Sareptas goal of changing the lives of patients with rare diseases around the world; and Sarepta being well-positioned to continue to lead the industry.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: Sarepta may not be able to execute on its business plans and goals, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its product candidates to market, due to a variety of reasons, many of which may be outside of Sareptas control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates and the COVID-19 pandemic; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect Sareptas business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Internet Posting of Information

We routinely post information that may be important to investors in the 'For Investors' section of our website atwww.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, 617-274-4052iestepan@sarepta.com

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

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Sarepta Therapeutics Announces Retirement of Sandy Mahatme, Chief Financial Officer and Chief Business Officer - GlobeNewswire

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

The project, the results of which were published in the journal Nature, offered whole-genome sequencing as a diagnostic test to patients with rare diseases across an integrated health system, a world first in clinical genomics.

Whole genome sequencing is the technology used by the 100,000 Genomes Project, a service set up by the government which aims to introduce routine genetic diagnostic testing in the NHS. The integration of genetic research with NHS diagnostic systems increases the likelihood that a patient will receive a diagnosis and the chance this will be provided within weeks rather than months.

The multi-centre study, led by researchers at the National Institute for Health Research (NIHR) BioResource together with Genomics England, demonstrates how sequencing the whole genomes of large numbers of individuals in a standardised way can improve the diagnosis and treatment of patients with rare diseases.

The researchers, including experts from the University of Bristol, studied the genomes of groups of patients with similar symptoms, affecting different tissues, such as the brain, eyes, kidney, blood, or the immune system. They identified a genetic diagnosis for 60 per cent of individuals in one group of patients with early loss of vision.

Principal investigators Andrew Mumford, Professor of Haematology, and Moin Saleem, Professor of Paediatric Renal Medicine, led the set-up of the programme and oversaw regional enrolment in the South West. Professor Mumford provided national oversight for blood related disorders, while Professor Saleem managed inherited kidney diseases.

Professor Mumford and researchers in the School of Cellular and Molecular Medicine collaborated with the Bristol NIHR Biomedical Research Centre and the University of Cambridge to develop ways to improve the genetic identification of blood disorders, contributing significantly to the breakthrough diagnostic potential.

Professor Mumford said: This pioneering study illustrates the power of whole genome sequencing for diagnosis of rare human diseases. The approach developed in this research has paved the way for the flagship 100,000 Genomes Project and the introduction of whole genome sequencing into standard NHS care.

Professor Saleem established the UK National Renal Rare Disease Registry, and the national and international NephroS (Nephrotic Syndrome) groups, based within the UK Renal Registry in Bristol. These provided recruitment, essential genetic data, and DNA collection for the study. Researchers in Bristol provided functional and clinical insights leading to the discovery of causative genes relating to kidney disorders.

Professor Saleem said: Rare diseases in their entirety are common, in that there are more than 7,000 different rare diseases in total affecting about 7 per cent of the population. Most have a genetic cause, so this research for the first time brings the most powerful genetic sequencing capabilities to apply across the whole health service, meaning all patients will now have the best possible chance of finding their individual genetic defect.

In the study, funded mainly by the National Institute for Health Research, the entire genomes of almost 10,000 NHS patients with rare diseases were sequenced and searched for genetic causes of their conditions. Previously unobserved genetic differences causing known rare diseases were identified, in addition to genetic differences causing completely new genetic diseases.

The team identified more than 172 million genetic differences in the genomes of the patients, many of which were previously unknown. Most of these genetic differences have no effect on human health, so the researchers used new statistical methods and powerful supercomputers to search for the differences which cause disease a few hundred needles in the haystack.

Using a new analysis method developed specifically for the project, the team identified 95 genes in which rare genetic differences are statistically very likely to be the cause of rare diseases. Genetic differences in at least 79 of these genes have been shown definitively to cause disease.

The team searched for rare genetic differences in almost all of the 3.2 billion DNA letters that make up the genome of each patient. This contrasts with current clinical genomics tests, which usually examine a small fraction of the letters, where genetic differences are thought most likely to cause disease. By searching the entire genome researchers were able to explore the switches and dimmers of the genome the regulatory elements in DNA that control the activity of the thousands of genes.

The team showed that rare differences in these switches and dimmers, rather than disrupting the gene itself, affect whether or not the gene can be switched on at the correct intensity. Identifying genetic changes in regulatory elements that cause rare disease is not possible with the clinical genomics tests currently used by health services worldwide. It is only possible if the whole of the genetic code is analysed for each patient.

Dr Ernest Turro, from the University of Cambridge and the NIHR BioResource, said: We have shown that sequencing the whole genomes of patients with rare diseases routinely within a health system provides a more rapid and sensitive diagnostic service to patients than the previous fragmentary approach, and, simultaneously, it enhances genetics research for the future benefit of patients still waiting for a diagnosis.

"Thanks to the contributions of hundreds of physicians and researchers across the UK and abroad, we were able to study patients in sufficient numbers to identify the causes of even very rare diseases."

Paper:

Whole-genome sequencing of patients with rare diseases in a national health system, by Ernest Turro et alin Nature.

There are thousands of rare diseases and, together, they affect more than three million people in the UK. To tackle this challenge, the NIHR BioResource created a network of 57 NHS hospitals which focus on the care of patients with rare diseases.

Based on the emerging data from the present NIHR BioResource study and other studies by Genomics England, the UK government previously announced that the NHS will offer whole-genome sequencing analysis for all seriously ill children with a suspected genetic disorder, including those with cancer. The sequencing of whole genomes will expand to one million genomes per year by 2024.

Whole-genome sequencing will be phased in nationally for the diagnosis of rare diseases as the standard of care, ensuring equivalent care across the country.

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July: Genome sequencing rare diseases | News and features - University of Bristol

Christine Stanley, Ph.D., Chief Director of Clinical Genomics at Variantyx

The answer to questions about human disease can be found in our genes. The difficulty in the past has been the testing process, a sort of trial and error approach of drilling down into the multitude of variants that can be found within the genes, variants that when analyzed in tandem with detailed clinical histories can actually tell the story and lead to a faster diagnosis.

Human beings carry around 20,000 genes and, of those, approximately 5,000 are somewhat understood, and those genes can be associated with several diseases and each disease can be associated with dozens of clinical symptoms or more. It was believed that five percent or less of the human population carry variants involved in genetic diseases. But a recent study in the Annals of Internal Medicine, now suggests the number of people with variants linked to genetic diseases is closer to 20 percent. Many other factors may determine whether an individual actually develops a disorder, but these numbers suggest the acceptance of a new approach that provides the most useful diagnostic data from a single test thats easier on the patients and families and provides the shortest time to a diagnosis and the best chance at implementing treatments.

Here is an important reason. Parents with children suspected of having a genetic disease routinely face a diagnostic odyssey that typically lasts five to seven years and entails seeing an average of seven different physicians. Its an odyssey that comes with an average cost of diagnosis reaching $21,099, more than seven times the cost of a single whole-genome sequencing test.

Historically, genetic testing has been really disjointed. Tests that were developed 10 to 15 years ago are still being run today by laboratories. These tests target extremely specific areas for an exceedingly small number of changes that cause a certain disease. It is like looking under a lamp post. And an individual, who is suspected of having the disease, will be tested for one particular variant or a small number of variants. It is an approach that is lacking in quick, definitive, and accurate results. Unless the tested area accounted for the majority of the disease-causing variants, it then forces the ordering of more tests to try to find other causes of the disease, either within that same gene or within other genes. This is happening sequentially, so the patient keeps receiving negative results, and then additional tests are ordered and the merry-go-round can continue for years. It cost families financially and emotionally. Delaying the time to diagnosis can also close the effective treatment window in cases where early treatment is important for a good prognosis.

Ordering a single whole-genome sequencing (WGS) test right off the bat replaces almost all of those long, cumbersome, and costly processes. It all but eliminates having to endure multiple genetic tests because a patient needs only one sample and one turnaround time for the greatest chance to arrive at the correct diagnosis. More importantly, if the test results were negative and then a new gene associated with the patients disease is reported the next day, and that patient has a variant in that gene, a clinician can make that connection by reanalyzing the data rather than by bringing the patient back in for a new sample. In that way, genomic testing has really revolutionized the entire genetic testing industry by providing a comprehensive analysis with the shortest time to diagnosis.

Whole-genome sequencing does not require the mechanical step of isolating genes first. It enables the identification of different types of variants that labs do not typically see when one isolates genes. It also enables the use of sophisticated algorithms applied via software to allow for the ranking of variants in a way that pulls variants that are known to cause the disease to the top of the list for examination. Variants can also be ranked by looking at the severity of the effect of the variant on genes that most closely match the patients clinical symptoms. Those results are parsed based on the known inheritance patterns of these genes. Patients can be looked at through both of those lenses at the same timethe severity of the changes that are identified, and the changes that match with the clinical symptoms of the patient.

Whole-genome testing will soon become the first line of defense, rather than a last resort for families or individuals seeking clarity on genetic diseases because of its ability to incorporate sophisticated bioinformatics and data interpretation. It is a faster route for the proper diagnosis and treatment for both early-onset diseases like epilepsy and intellectual disabilities, as well as late-onset disorders like ataxia and ALS. It can be used to diagnose almost any genetic disorder spanning such areas as neurology, endocrinology, nephrology, hearing and vision loss, blood disorders like thalassemia, muscular dystrophy, etc. While insurance reimbursement can be challenging today, the insurance payers will come around, as they have always done in the past, because this test saves time, money, and supports better outcomes for patients.

About Christine Stanley, Ph.D.

Christine Stanley, Ph.D., is the Chief Director of Clinical Genomics for Variantyx, a provider of highly specialized genetic testing to clinicians and their patients. Christine is responsible for overseeing clinical genomic interpretations and regulatory compliance for the clinical laboratory.

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Eliminating the Long, Cumbersome and Costly Diagnosis of Genetic Diseases - HIT Consultant

DUBLIN, July 1, 2020 /PRNewswire/ -- The "Rare Disease Diagnostics: Technologies and Global Markets" report has been added to ResearchAndMarkets.com's offering.

The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019, rising at a CAGR of 9.5% over the forecast period.

The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.

This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.

The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.

More than 95 companies in the rare disease diagnostic industry are profiled in this report.

The research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.

The report includes:

Market Insights

Rare diseases comprise a growing public health priority, as they affect upward of 300 million people globally and they are difficult to diagnose and treat.

There is a pressing need for better ways to detect and diagnose rare diseases, as well as to provide companion diagnostics for therapy guidance, clinical trials enrollment and therapy monitoring applications.

Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions. Many rare diseases go undiagnosed for long periods of time because patients, families and physicians may have limited awareness of certain diseases, and the symptoms may not be informative to healthcare workers who may not have encountered such diseases before.

Extended time to diagnosis of a rare disease, along with so-called diagnostic odysseys, can lead to negative outcomes, including misdiagnosis or disease progression. Rapid, accurate diagnostics can significantly shorten these diagnostic odysseys.

In addition to early detection and diagnostic potential, rare disease therapeutics will be important in orphan drug development and use. Orphan drugs address rare disease patient populations, and they are expected to have a high growth rate through 2024. By 2024, orphan drugs may make up as much as one-fifth of global prescription sales. Rare disease diagnostics can be used to help physicians make proper decisions regarding which therapies to use and ways to monitor the efficacy of those therapies during treatment courses. Rare disease diagnostics can also be used to help select patients for orphan drug clinical trials.

More than 70% of rare diseases are inherited conditions, and they thus have genetic components, so this industry relies heavily on genetic analysis methods, including polymerase chain reaction (PCR), next-generation sequencing (NGS) and Sanger sequencing.

Key Topics Covered

Chapter 1 Introduction

Chapter 2 Summary and Highlights

Chapter 3 Overview

Chapter 4 Technology Background

Chapter 5 Rare Disease Diagnostics Initiatives

Chapter 6 Rare Disease Diagnostic Industries

Chapter 7 Rare Disease Diagnostics Strategic Alliances and Acquisitions

Chapter 8 Rare Disease Diagnostics Markets

Chapter 9 Rare Disease Diagnostics Patents and Intellectual Property

Chapter 10 Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/rp6ok6

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Rare Disease Diagnostics Industry Anticipated to Reach $26.7 Billion by 2024 - Market Shares by Disease Class, Indication, Analysis Platform, Analysis...

Hearing loss and tinnitus can occur due to noise exposure and may be associated with adverse effects on overall well-being due to anxiety, depression, sleep disorders, and various comorbidities.1 Determining the exact cause, circumstances of onset, and contributing factors to hearing loss and/or tinnitus can be challenging. In some cases, hearing loss can be attributed to a singular medical cause such as a disease, genetic condition, autoimmune disorder, medical treatment, or head trauma. However, in many individuals who are diagnosed with bilateral sensorineural hearing loss, the root cause may be difficult to determine, especially when considering a lifetime of exposures to noise and other ototoxicants. Evidence from animal research suggests that noise exposure may result in delayed-onset auditory system damage, which means that traditional audiometric testing may not immediately reveal noise-related auditory damage.2 Additionally, tinnitus is an entirely subjective experience that cannot be measured directly, and time-consuming psychoacoustic testing for tinnitus is not feasible in many clinical situations.3 Lastly, it can be difficult to accurately and precisely assess how hearing loss and tinnitus may have impacted a patient's quality of life; such an assessment relies on subjective patient reports usually gathered in conversations during a clinical appointment.

Shutterstock/wavebreakmedia, audiology, noise, military.

As audiology clinicians, our responsibility includes educating patients about factors that may contribute to hearing loss, helping them understand what may have caused the loss, mitigating hearing loss progression to the extent possible, and developing plans for future management of hearing loss and/or tinnitus. However, clinical appointments do not always allow adequate time for thorough and accurate case history review. With limited information derived from a case history and audiologic assessment, it may be difficult to determine the cause, onset, and risk for progression of auditory decline. To accurately understand an individual's hearing history as it relates to noise exposure, detailed information is needed about types, extent, and frequency of exposures throughout the patient's life. It is challenging but important to consider the fullest possible range of potential noise exposure, such as musical concerts, sporting events, fireworks, lawn equipment, noisy restaurants and bars, firearms, and motorsports. Assessment is all the more difficult because there is no widely accepted and meaningful way to interpret and quantify all relevant exposures. Audiologists must primarily hypothesize how a patient's noise exposure history may contribute to the eventual onset of hearing loss and/or tinnitus, and exercise best clinical judgment based on experience to project future outcomes. Audiologists use Occupational Safety and Health Administration (OSHA) and National Institute for Occupational Safety and Health (NIOSH) exposure guidelines to counsel patients on the proper use of hearing protection to prevent auditory damage, but have few options when counseling to explain hearing damage that may have already occurred.

Epidemiologic research is needed to better understand longitudinal relationships between noise exposure, hearing loss, and tinnitus.4 To address these relationships, the Noise Outcomes in Service Members Epidemiology Study (NOISE Study) was developed as a joint effort by the Department of Veterans Affairs (VA) Rehabilitation Research & Development (RR&D) National Center for Rehabilitative and Auditory Research (NCRAR) in Portland, OR, and the Department of Defense (DoD) Hearing Center of Excellence (HCE) in San Antonio, TX.5 This article explains the importance of longitudinal epidemiologic research as it relates to hearing health care, describes the data collection methods of the ongoing NOISE Study, and discusses how some NOISE Study tools can be used in clinical practice to improve patient outcomes.

Active duty military service members and veterans may be more susceptible than the general public to hearing loss and tinnitus, likely due to risk factors associated with military service, including noise exposure, chemical and blast exposures, and traumatic brain injury (TBI).6 In 2018, tinnitus and hearing loss were the two most prevalent military service-connected disabilities, with over two million cases.7

In 2006, the Institute of Medicine (IOM) acted on a congressional mandate to address issues related to hearing loss and tinnitus in the military. The IOM published Noise and Military Service: Implications for Hearing Loss and Tinnitus, which encouraged researchers to collect longitudinal data from service members and veterans relating to military and nonmilitary risk factors, auditory function, presence and severity of tinnitus, and other potentially correlated variables.8 The objectives of the IOM's recommendations were to learn more about the onset of hearing loss and tinnitus and how they change over time. This type of research would help to identify cohorts at greatest risk for auditory injury, guide effective hearing conservation programs, inform the development of advanced treatments to mitigate the underlying causes of hearing loss, and determine whether delayed-onset hearing loss and/or tinnitus occurs in humans. The NOISE Study was initiated as a direct result of the IOM's recommendations.

The NOISE Study, which began recruitment in 2014, aims to determine the prevalence, etiology, and effects of early-onset tinnitus and hearing loss among military service members in active duty and those who have recently left (within the past two and a half years ).5 Ultimately, this will involve a cohort of at least 1,500 participants and longitudinal annual follow-up data. Data collected for the study include noise and ototoxicant exposures, audiometric measurements, pre-existing medical conditions, including a history of TBI and mental health conditions, and perceived effects on quality of life. Recently, separated service members are being recruited to participate in the NOISE Study at the NCRAR, and active duty service members are being recruited at the HCE. To date, over 1,000 participants have been enrolled.

Longitudinal and epidemiologic studies lend themselves to collecting an abundance of data. The NOISE Study captures comprehensive audiometric measures gathered through pure-tone air conduction (0.25-16 kHz) and bone conduction (0.5-4 kHz) audiometry, immittance testing (tympanometry and acoustic reflexes), speech audiometry (speech reception thresholds and word recognition), Speech Recognition in Noise Testing (SPRINT), dichotic digits testing, distortion product otoacoustic emissions (DPOAE), and, when applicable, tinnitus loudness match, pitch match, and maskability testing (minimum masking level). This thorough audiometric evaluation takes approximately 90-120 minutes conducted first at the time of enrollment and then repeated every five years.

The NOISE Study also administers multiple questionnaires (15 for all participants, 18 for those with tinnitus) upon enrollment into the study, prior to audiometric evaluation, and again annually over the life of the study. In the first five years of the study, questionnaires were administered as paper forms in packets of up to 70 single-sided pages. Many participants found it cumbersome to manage and return the bulky questionnaire packets every year. This led to frequent data collection and processing lags and the need for time-consuming reminder phone calls and e-mails. In late 2019, all NOISE Study questionnaires were converted to an electronic format and made accessible via a web-based, HIPAA-compliant data collection tool (Research Electronic Data Capture or REDCap).9,10 While the use of this platform is still relatively new to the NOISE Study, we have already seen faster and higher rates of return on the annual follow-up questionnaires and observed fewer data error incidents.

The NOISE Study's successful transition to an electronic data collection platform highlights the potential value of automated data collection for clinical purposes. Clinical appointment time is frequently limited, forcing clinicians to prioritize and manage their time carefully and to consider what can be done to make clinical encounters as effective and beneficial as possible for patients. While it is not possible to administer all available instruments and outcome measures that might be informative, some of the NOISE study questionnaires could be implemented practically in clinical settings. Instead of asking patients to spend an additional 60 minutes in the medical office to fill out questionnaires, they could be given the option to complete the questionnaires electronically at their convenience before or after their appointment and from the comfort of their own home. This may help clinicians develop a more comprehensive understanding of their patients, and, in turn, give patients more confidence in the thoroughness of their care and treatment plan. The following questionnaires used in the NOISE Study could be of interest to practicing clinicians.

Tinnitus Screener (TS). This six-item tool was designed to determine the presence of tinnitus and to categorize identified tinnitus as constant, intermittent, occasional, or temporary.11 It also determines whether tinnitus is acute (more than six months) or chronic (less than six months). The TS takes only two to three minutes to complete, and can be included as an initial tool if a patient has specific questions about tinnitus, part of a routine case history, or administered before or after audiologic assessment. It can be a helpful starting point for counseling to determine whether intervention for tinnitus may be necessary.

Tinnitus and Hearing Survey (THS). When determining the need for clinical intervention, it is essential to distinguish between tinnitus and hearing difficulties.12 The THS is a 10-item instrument that can be used to distinguish problems due to tinnitus from those due to hearing loss or decreased sound tolerance (hyperacusis).13 Patients often describe their hearing difficulties as tinnitus, or vice versa. For these cases, the THS, which was designed to assess subjective distress related to a specific issue, can be used to examine hearing and tinnitus complaints separately. Two survey items address hyperacusis since this is often reported by patients who have tinnitus.

Many patients with hearing loss are hesitant to proceed with hearing aids. They may be unaware that tinnitus and hearing loss can be related, so they don't consider amplification to be potentially therapeutic for tinnitus. The THS may help in developing a better understanding of the source of a patient's auditory complaints.

Lifetime Exposure to Noise and Solvents Questionnaire (LENS-Q). This is an in-depth, self-report questionnaire used to quantify a lifetime history of continuous and impulse noise exposures as well as exposure to potentially ototoxic chemicals/-solvents from military occupational, non-military occupational, and non-occupational/recreational sources.14 Respondents are asked yes or no exposure questions in each section. Those who answer yes are asked to provide information concerning exposure duration, frequency, and use of hearing protection or other safety equipment. These details are essential to the longitudinal epidemiologic identification of potential risk factors for hearing loss and tinnitus.

Although the LENS-Q is not yet available for clinical use because the normative data have not yet been published, this instrument could eventually provide a basis for standardized scoring that describes an individual's risk level for hearing loss due to noise or chemical exposures. On average, the questionnaire takes 30 minutes to complete. If made available for completion prior to an audiologic clinical appointment, its findings could be very helpful as a framework for counseling.

Determining the onset and cause of hearing loss can be difficult, especially for patients who present with a lengthy history of noise and/or solvent exposure. No universally accepted method exists to identify individuals who are at increased risk for hearing loss based on exposure history, and no tool can effectively predict the impact of noise exposure on auditory function later in life. The ongoing NOISE Study aims to evaluate such effects in military service members and veterans. Tools and methods that have been created and/or implemented for the NOISE Study can also benefit patient outcomes in the audiology clinic setting. These tools can be adapted to obtain standardized measures and provide helpful perspectives to guide management plans.

Editor's note: The U.S. Army Medical Research Acquisition Activity, 820 Chandler Street, Fort Detrick MD 21702-5014 is the awarding and administering acquisition office. This work was supported by the Office of the Assistant Secretary of Defense for Health Affairs, through the Joint Warfighter Medical Research Program under Award No. W81XWH-17-1-0020. Opinions, interpretations, conclusions, and recommendations are those of the authors and are not necessarily endorsed by the Department of Defense. The use of REDCap acknowledges support from grant No. UL1TR002369.

Originally posted here:
NOISE Study: Examining Hearing Loss, Tinnitus in the U.S.... : The Hearing Journal - LWW Journals

The global Genetic Modification Therapies market is expected to exceed more than US$ 3.5 Billion by 2024 at a CAGR of 34% in the given forecast period.

FYI, You will get latest updated report as per the COVID-19 Impact on this industry. Our updated reports will now feature detailed analysis that will help you make critical decisions.

Browse Full Report: https://www.marketresearchengine.com/genetic-modification-therapies-market

The global Genetic Modification Therapies market report provides geographic analysis covering regions, such as North America, Europe, Asia-Pacific, and Rest of the World. The Genetic Modification Therapies market for each region is further segmented for major countries including the U.S., Canada, Germany, the U.K., France, Italy, China, India, Japan, Brazil, South Africa, and others.

Genetic modification therapies, significantly gene therapy and RNA therapy, have existed for many years, with very little clinical success. However, recent enhancements in these therapies, together with higher delivery systems, additional economical and sturdy gene expression constructs, precise polymer editing tools, have brought this industry to the forefront, and its currently poised for explosive growth within the coming back years.

Because of the potentially curative nature of those medicines theres monumental potential in several applications, starting from cancer to neurology to rare diseases. Genetic modification therapies represent consecutive wave of medicines with monumental potential for treating and curing draining and high diseases. As a result of its wide scope, genetic modification therapy can play a vital role within the future world medical economy.

Continuing advances in key technologies like DNA editing, viral design and production, and gene expression, further as a pressing medical want in several serious and enervating disorders, are driving the expansion of the marketplace for genetic modification therapies. Developments in these multidisciplinary fields promise to advance the genetic modification therapies trade and build distinctive market opportunities.

The overall market is anticipated to witness important growth in opportunities for a spread of stakeholders within the returning decade. its necessary to spotlight that many technology suppliers, reaching to develop and / or support the event of gene therapies, with improved effectiveness and safety, have designed and already introduced advanced platforms for the engineering of vectors. Innovation during this domain has additionally semiconductor diode to the invention of novel molecular targets and strong the analysis pipelines of corporations targeted during this house. the potential to focus on numerous therapeutic areas is taken into account to be amongst the foremost outstanding growth drivers of this market.

Market Insights

The global Genetic Modification Therapies market is segregated on the basis of Platform Technology as Gene editing, Gene Therapies, Genetically Modified Cell Therapies, and RNA Therapies. Based on Delivery Technologies the global Genetic Modification Therapies market is segmented in AAV, Adenovirus, Lentivirus, Retrovirus, Other Viral, and Nonviral Based on End-User Industry the global Genetic Modification Therapies market is segmented in Hospitals, Diagnostics and Testing Laboratories, Academic and Research Organizations, and Others.

Based on Disease, the global Genetic Modification Therapies market is segmented in Cardiology, Oncology, Ophthalmology, Hematology, Musculoskeletal, Neurology, Rare Diseases, Other Indications.

Competitive Rivalry

4D Molecular Therapeutics, Abeona Therapeutics, Beam Therapeutics, Casebia Therapeutics, Editas Medicine, Fate Therapeutics, GE Healthcare, Hitachi Chemical Advanced Therapeutics, Immunocore, Jivana Biotechnology, and others are among the major players in the global Genetic Modification Therapies market. The companies are involved in several growth and expansion strategies to gain a competitive advantage. Industry participants also follow value chain integration with business operations in multiple stages of the value chain.

The Genetic Modification Therapies Market has been segmented as below:

The Genetic Modification Therapies Market is segmented on the lines of Genetic Modification Therapies Market, By Platform Technology, Genetic Modification Therapies Market, By Delivery Technologies, Genetic Modification Therapies Market, By End-User Industry, Genetic Modification Therapies Market, By Disease, Genetic Modification Therapies Market, By Region and Genetic Modification Therapies Market, By Company.

Genetic Modification Therapies Market, By Platform Technology this market is segmented on the basis of Gene editing, Gene Therapies, Genetically Modified Cell Therapies and RNA Therapies. Genetic Modification Therapies Market, By Delivery Technologies this market is segmented on the basis of AAV, Adenovirus, Lentivirus, Retrovirus, Other Viral and Nonviral. Genetic Modification Therapies Market, By End-User Industry this market is segmented on the basis of Hospitals, Diagnostics and Testing Laboratories, Academic and Research Organizations and Others. Genetic Modification Therapies Market, By Disease this market is segmented on the basis of Cardiology, Oncology, Ophthalmology, Hematology, Musculoskeletal, Neurology, Rare Diseases and Other Indications. Genetic Modification Therapies Market, By Region this market is segmented on the basis of North America, Europe, Asia-Pacific and Rest of the World. Genetic Modification Therapies Market, By Company this market is segmented on the basis of 4D Molecular Therapeutics, Abeona Therapeutics, Beam Therapeutics, Casebia Therapeutics, Editas Medicine, Fate Therapeutics, GE Healthcare, Hitachi Chemical Advanced Therapeutics, Immunocore and Jivana Biotechnology.

The report covers:

Report Scope:

The global Genetic Modification Therapies market report scope includes detailed study covering underlying factors influencing the industry trends.

The report covers analysis on regional and country level market dynamics. The scope also covers competitive overview providing company market shares along with company profiles for major revenue contributing companies.

The report scope includes detailed competitive outlook covering market shares and profiles key participants in the global Genetic Modification Therapies market share. Major industry players with significant revenue share include 4D Molecular Therapeutics, Abeona Therapeutics, Beam Therapeutics, Casebia Therapeutics, Editas Medicine, Fate Therapeutics, GE Healthcare, Hitachi Chemical Advanced Therapeutics, Immunocore, Jivana Biotechnology, and others.

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Genetic Modification Therapies Market 2020: Challenges, Growth, Types, Applications, Revenue, Insights, Growth Analysis, Competitive Landscape,...

The National Institutes of Health (NIH) has announced it will provide $75 million to continue funding its Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Networkwith a new emphasis on expanding genetic diversity within its studies.

NIHs National Human Genome Research Institutes (NHGRI) first launched the eMERGE Network in 2007 to use electronic health records and large biorepositories for genomics research that could be applied to clinical care. Now, more recent research has highlighted the need to generate datasets from more diverse populations to better understand estimates of disease risk in the general population, according to Prabarna Ganguly, Ph.D., science writer and editor for NHGRI, in a July 1 announcement.

The funding will begin this year and continue over the next five years, Ganguly said, with $61 million going directly to four clinical sites, including the Mayo Clinic, Vanderbilt University Medical Center, Brigham and Womens Hospital and Northwestern University. NIH plans for these sites to collectively recruit some 10,000 patientswith 35 percent to come from diverse populations.

In addition, NIH will fund six new enhanced diversity clinical sites, to include: the University of Alabama, the Icahn School of Medicine at Mount Sinai, Cincinnati Childrens Hospital Medical Center, Columbia University, the Childrens Hospital of Philadelphia, and the University of Washington Medical Center. These sites will recruit about 15,000 patients, with 75 percent or more coming from diverse ancestries, Ganguly said.

The goal of the clinical sites is to recruit participants from diverse groups, such as racial or ethnic minority populations, underserved populations, or populations who experience poorer medical outcomes, Ganguly said. The sites will then conduct and validate genomic risk-assessment and management methods for a number of common diseases, including coronary heart disease, Alzheimers disease, and diabetes.

The need for expanding the diversity of NIHs genetic pool for research is driven by the lack of diversity in polygenic risk scores, a new approach for assessing disease risk based on DNA variants. Until recently, these scores have almost exclusively involved people of European ancestry, Ganguly said. It is not clear how well the findings from these initial studies can be used for risk assessment in non-European ancestry populations.

NIH will also focus on adding new research variables such as age, body-mass index, alcohol use and other clinical dataall of which can affect risks for contracting diseases, Ganguly said.

The newly funded eMERGE sites will also leverage the NHGRI Genomic Data Science Analysis, Visualization, Informatics Lab-space (AnVIL) cloud-based resource to develop tools and workflows for generating integrated risk scores to be shared with the biomedical research and clinical genomics communities, Ganguly said. In addition, the agency will inform clinical decision support platforms with the data it collects from the eMERGE electronic health records.

NIH has allotted $13.4 million of the funding to go to Vanderbilt University for an eMERGE Network coordinating center.

Read more here:
NIH to Provide $75M to Increase Diversity in Its eMERGE Network - Clinical OMICs News

Newswise Massachusetts Eye and Ear, a member hospital of Mass General Brigham, is entering into an exclusive licensing agreement with Biogen to develop a potential treatment for inherited retinal degeneration due to mutations in the PRPF31 gene, which are among the most common causes for autosomal dominant retinitis pigmentosa.

Inherited retinal degenerations (IRDs), such as retinitis pigmentosa, are a group of blinding eye diseases caused by mutations in over 270 different genes. Mutations in the PRPF31 gene are the second most common cause of dominant IRD and lead to defects in the function of the retinal pigment epithelial (RPE) cells and photoreceptors of the retina. Previous lab-based research performed by members of the Ocular Genomics Institute at Harvard Ophthalmology, led by Eric A. Pierce, MD, PhD, demonstrated that adeno-associated virus (AAV)-mediated gene augmentation therapy for PRPF31 can restore normal function to PRPF31 mutant RPE cells.

Biogen (Nasdaq: BIIB), a biopharmaceutical company that discovers, develops, and delivers worldwide innovative therapies for people living with serious neurological and neurodegenerative diseases as well as related therapeutic adjacencies, will build upon this prior work, and conduct the studies needed for clinical development of PRPF31 gene therapy. This includes the pre-clinical studies needed to support progression to clinical trials of PRPF31 gene therapy. As part of the agreement, Biogen will receive an exclusive license to develop the product worldwide and will be responsible for all U.S. Food and Drug-Administration (FDA) required investigational new drug (IND) enabling studies, clinical development and commercialization.

The treatment of IRDs with highly effective AAV-based gene therapies is core to Biogens ophthalmology strategy, said Chris Henderson, Head of Research, Biogen. This agreement underscores our commitment to that strategy and builds off of our acquisition of Nightstar Therapeutics in 2019 and our active clinical trials of gene therapies for different genetic forms of IRD. We are excited to work with Massachusetts Eye and Ear and look forward to applying our preclinical and clinical experience to their leading PRPF31 program.

We are thrilled to work with Biogen, who will bring to this effort its deep experience with the clinical development process, as we work toward our goal of developing a gene therapy for people with PRPF31-related eye disease, added Dr. Pierce, who is the William F. Chatlos Professor of Ophthalmology at Harvard Medical School. My ultimate hope for patients with inherited retinal disorders due to mutations in PRPF31 is that a gene therapy will preserve and potentially restore some of their vision.

About the Ocular Genomics Institute

The Ocular Genomics Institute at Harvard Ophthalmology aims to translate genomic medicine into precision ophthalmic care for patients with inherited eye disorders. It is home to one of the leading centers for early-phase clinical trials of therapies for inherited retinal degenerations, with seven gene-based and one stem cell trial currently in progress. The group works in conjunction with other departments throughout Harvard Medical School and Mass. Eye and Ear, including the Bioinformatics Center and Grousbeck Gene Therapy Center.

Dr. Pierces lab, established in 2011, is dedicated to research in an effort to improve the understanding of the molecular bases of IRDs so that rational therapies can be developed for these diseases.

In 2018, Mass. Eye and Ear surgeons performed the first post-FDA approval gene therapy for patients with a form of inherited retinal blindness caused by mutations in the gene RPE65 by injecting an AAV-based drug treatment into a patients eye, which restored vision in a 13-year-old boy. This therapy, called Luxturna, is now being used to treat patients with RPE65-associated retinal degeneration around the world.

One of the exciting aspects of our collaboration with Biogen is that mutations in the PRPF31 gene affect approximately 10 to 20 times more people than mutations in the RPE65 gene, said Dr. Pierce. Success with PRPF31 gene therapy could provide visual benefit to more patients, which is our ultimate goal.

Mass. Eye and Ear was one of the first centers to offer life-changing gene therapies to patients with inherited retinal disease, and we are thrilled with this new opportunity to develop a translational retinal therapy that could help even more patients, said Joan W. Miller, MD, Chief of Ophthalmology at Mass. Eye and Ear, Massachusetts General Hospital, and Brigham and Womens Hospital, and Chair of Ophthalmology and the David Glendenning Cogan Professor of Ophthalmology at Harvard Medical School.

According to Chris Coburn, Chief Innovation Officer, Mass General Brigham, the collaboration with Biogen illustrates the importance of academia and industry teaming to solve problems for patients worldwide. We are eager to see this progress reach patients who are challenged by blinding, degenerative eye disease, said Coburn. We look forward to working with Biogen to advance this break-through innovation.

Patients with an inherited retinal disease require genetic testing prior to being considered for any gene therapy treatment.

About Massachusetts Eye and Ear

Massachusetts Eye and Ear, founded in 1824, is an international center for treatment and research and a teaching hospital of Harvard Medical School. A member of Mass General Brigham, Mass. Eye and Ear specializes in ophthalmology (eye care) and otolaryngologyhead and neck surgery (ear, nose and throat care). Mass. Eye and Ear clinicians provide care ranging from the routine to the very complex. Also home to the world's largest community of hearing and vision researchers, Mass. Eye and Ear scientists are driven by a mission to discover the basic biology underlying conditions affecting the eyes, ears, nose, throat, head and neck and to develop new treatments and cures. In the 20192020 Best Hospitals Survey,U.S. News & World Reportranked Mass. Eye and Ear #4 in the nation for eye care and #2 for ear, nose and throat care.For more information about life-changing care and research at Mass. Eye and Ear, visit our blog,Focus, and follow us onInstagram,TwitterandFacebook.

About Harvard Medical School Department of Ophthalmology

The Harvard Medical SchoolDepartment of Ophthalmologyis one of the leading and largest academic departments of ophthalmology in the nation. Composed of nine affiliates (Massachusetts Eye and Ear, which is home to Schepens Eye Research Institute; Massachusetts General Hospital; Brigham and Womens Hospital; Boston Childrens Hospital; Beth Israel Deaconess Medical Center; Joslin Diabetes Center/Beetham Eye Institute; Veterans Affairs Boston Healthcare System; Veterans Affairs Maine Healthcare System; and Cambridge Health Alliance) and several international partners, the department draws upon the resources of a global team to pursue a singular goaleradicate blinding diseases so that all children born today will see throughout their lifetimes. Formally established in 1871, the department is committed to its three-fold mission of providing premier clinical care, conducting transformational research, and providing world-class training for tomorrows leaders in ophthalmology.

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Massachusetts Eye and Ear Enters Licensing Agreement with Biogen to Develop Treatment for Inherited Retinal Disorder - Newswise

It is hard to remember what science was like beforehand

Jun 27th 2020

TWENTY YEARS ago, on June 26th 2000, those running the public Human Genome Project and its private-sector shadow, a firm called Celera Genomics, decided to declare victory. In a simultaneous breasting of the tape, each published a working draft of the genome. The broker, Bill Clinton, hosted the chief scientists at the White House. Hyperbolic comparisons were made to the Apollo project to land people on the Moon.

Unlike Apollo, though, this announcement marked a beginning rather than an end. Genomics is now so embedded in biology that it is hard to recall what things were like before it. Those first human sequences cost billions of dollars to obtain. Today, with the advent of new technologies, a full sequence costs about $200, and less detailed versions are cheaper still. It is as if, to use Apollo as the analogy, regular shuttles to the Moon had become available at prices an average family in the West could affordand the more adventurous might now be considering a trip to Mars.

Researchers with a hypothesis to test can, for instance, turn to biobanks containing details of tens or hundreds of thousands of peopletheir medical records, education, employment and, crucially, data about their genomes. Private companies will also sequence genomes to varying standards, for a suitable price. It is probably the case, and if not, it soon will be, that more than 1m human genomes have been sequenced by one method or another.

Genomics also helps non-medical biology. Many non-human species, including crops and domestic animals, have had their genomes sequenced. Though tinkering directly with the genes of organisms that end up on peoples plates still makes some a bit queasy, that is increasingly unnecessary. Genomic knowledge can now be used to speed up selective breeding, without the need for genetic engineering.

At the other end of the scientific spectrum, what can be done for Homo sapiens can be done, using DNA from fossils, for other (now extinct) species of human being: the Neanderthals and Denisovans. There is a possible practical interest even here. Sequencing shows that these species once interbred with Homo sapiens. It also suggests that the traces of that interbreeding which remain may help the recipient to fight off infections, by combating viruses and boosting the immune system.

Sources: INSDC; NHGRI; Broad Institute; S. Peyrgne et al., Science Advances, 2019; S. Mallick et al., Nature, 2016

This article appeared in the Graphic detail section of the print edition under the headline "Dawn of an era"

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The Human Genome Project transformed biology and medicine - The Economist

Longer life-expectancy is a cumulative effect of a healthy lifestyle and favorable environmental conditions. A trend of continuously increasing life expectancy has been a witness since a decade, primarily because of advances in medical sciences and treatment of chronic life-threatening diseases, availability of clean water and environment and other factors. This trend is projected to further show even more exponential growth graph owing to the anti-aging medicines, stem cell therapeutics, genetic screening and interventions, and high-tech biomedicines. American Academy of Anti-Aging Medicine claimed that anti-aging medicines can add up to 10-20 years to the life expectancy of a human. Today, a combination of calorie-restricted diet, regular exercise, and anti-aging medicines are claimed to slow the process of senescence and aging. Various medicines used against the treatment of acute or chronic diseases can be considered as anti-aging medicines, however, to define anti-aging medicine market we have considered only the drugs that are directly prescribed and used for delaying the effects of aging.

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The constantly growing demand to look young in old individuals and to remain young and youthful in young people drive the anti-aging market. The influence of aesthetics from the fashion and television industry propel the demand to retain the features and energy of younger age in old people. Additionally, the increasing number of anti-aging medicine manufacturers in the decade contribute to higher availability of the anti-aging medicine resulting in expansion of the global anti-aging medicine market. However, skeptical approach to anti-aging medicine as being an external stimulator of cell-cycles is a restraint to the expansion of anti-aging medicine market.

The global Anti-aging medicine market is segmented on basis of product type, age group, distribution channel, and region:

The rising demand for beauty consciousness amongst people and the desire to stay young is the primary factor fueling the growth of anti-aging medicines in the market. The acclaimed benefits of the products and affordability along with regional presence compel the demand for anti-aging medicine in the global market. Hormonal replacement therapy segment in product type is expected to account maximum market share in the terms of revenue in the global anti-aging medicine market. However, antioxidant therapy segment in product type is expected to grow with the highest CAGR over the forecast years owing to the rising awareness about the plethora of benefits of antioxidants in anti-aging among the public. On the basis of the route of administration, the global anti-aging medicine market is segmented as oral, injectable and topical, out of which oral segment is expected to generate maximum revenue share over the forecast period. As per the distribution channel, the global anti-aging medicine market is segmented as hospital pharmacies, retail pharmacies, e-commerce, and drug stores. The e-commerce segment in the distribution channel is estimated to grow with the highest CAGR over the forecast time.

Regionally, the global anti-aging medicine market is segmented into five key regions viz. North America, Latin America, Europe, Asia Pacific, and Middle East & Africa. North America anti-aging medicine market is projected to account for the largest market share in the terms of revenue in the global anti-aging medicine market owing to the higher healthcare expenditure and presence of numerous manufacturers.

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Europe is expected to hold the second largest share in the global anti-aging medicine market during the forecast period because of the growing geriatric population and higher spending on healthcare products and supplements. MEA anti-aging medicine market is expected to witness sluggish growth over the forecast time owing to the limited presence of manufacturers and lower healthcare expenditure. Asia Pacific is projected to grow with the highest CAGR over the forecast years in the global anti-aging medicine market due to higher demand from end users and regional penetration of the key players in the region.

Some of the players operating in the global anti-aging medicine market are Pfizer, Evolution GmbH, Himalaya Global Holdings Ltd., Cipla Limited, Mylan Laboratories, Novartis, Merck Group, Vitabiotics, William Ransom & Son Holdings Plc, Uni-Vite Healthcare and Health Made Easy Limited amongst others.

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Key End use Industries to Surge Sales of Anti-Aging Medicine During the COVID 19 pandemic - 3rd Watch News

29 June 2020

There may be at least two different biologically relevant subtypes of polycystic ovary syndrome (PCOS).

By comparing the genomes of 893 women of European ancestry diagnosed with PCOS, researchers found that these women could be grouped into at least two distinct subsets, which are associated with novel gene regions and which have different biological responses.

'We're starting to make headway on what causes PCOS. It's very frustrating for patients because it's poorly understood and patients often see several physicians before PCOS is diagnosed,' said senior author Dr Andrea Dunaif. 'Through genetics, we're beginning to understand the condition and may have specific targeted therapies in the not-too-distant future.'

PCOS is an infertility disorder that affects at least 15 percent of women of reproductive age. The cause of PCOS is unknown, but it does appear to run in families, suggesting a genetic basis to the disorder. PCOS is currently diagnosed based upon physical features and symptoms, including irregular or missing periods, raised levels of male sex hormones, hirsutism and small cysts on the surface of the ovaries.

There is a variation of symptoms among PCOS patients and this study, conducted by scientists at the Mount Sinai Health System in New York, aimed to discover whether there were any genetic, clinical or biochemical differences that could explain this.

Dr Dunaif and her team identified PCOS subtypes by classifying cases into relative groups called clusters from the results of their previously published PCOS genome-wide association study (GWAS). The clusters were then repeated in an independent group of 263 PCOS cases and the researchers identified two distinct PCOS subtypes: a 'reproductive' group and a 'metabolic' group.

Women in the 'reproductive' group (approximately 23 percent of cases) had raised levels of luteinising hormone (LH), which triggers ovulation, and higher sex hormone-binding globulin (SHBG) levels, a protein that regulates the ability of testosterone to enter its target tissues. In addition, this group had lower insulin levels and a lower body mass index (BMI).

Women in the 'metabolic' group (approximately 37 percent of cases) had raised levels of glucose and insulin and a higher BMI. They also had lower LH and SHBG levels.

The remaining women (approximately 40 percent of cases) had no distinguishable characteristics, with traits of both the metabolic and reproductive subgroups.

The researchers discovered that the subtypes tended to cluster in families and that carriers of rare genetic variants in DENND1A, a gene involved in male hormone production, were more likely to have the reproductive subtype of PCOS.

Rather than a catch-all approach for PCOS patients, the researchers suggest that these distinct forms may benefit from different treatment approaches, as they are underpinned by different biological mechanisms, and this could improve long-term outcomes for patients.

'In contrast to classifying disorders based on expert opinion, this is a very powerful objective approach to categorising syndromes like PCOS into distinct subtypes with different causes, treatment and clinical outcomes, said Dr Dunaif.

This study was published in PLOS Medicine.

Original post:
Polycystic ovary syndrome may have more than two different subtypes - BioNews

Boca Raton, FL, June 29 Human leukocyte antigens (HLA) diverse genetic markers on our cells that help match patients and donors for bone marrow transplant are the focus of a new study led by the Gift of Life Marrow Registry.

The study, in collaboration with researchers at Rutgers Cancer Institute of New Jersey and the genetic crowd science portal Root, aims to help answer a key question: why do some people get COVID19 or particular symptoms, while others avoid them? More than 350,000 donors in Gift of Life's registry have been invited to participate, helping researchers answer this important question.

"Every volunteer donor is already HLA-typed, presenting a tremendous opportunity to drive broader science through the prism of these immune-related genes," said Gift of Life's Founder and CEO Jay Feinberg. "We're excited to help the world understand how our immune systems may shape the pandemic."

"We hope to learn whether immune-vital tissue match genes such as HLA help explain why some of us avoid COVID-19, while others get severe symptoms or need particular treatments," said the study's principal investigator Jeffrey Rosenfeld, PhD, Assistant Professor of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School. "Adding such key data to the fight against COVID-19, we can help solve the mystery of why it affects different people so differently."

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Root's founder, geneticist Nathaniel Pearson, PhD, noted that "because transplant registries read HLA genes better than consumer DNA tests do, a study like this can best reveal how these diverse, immune-vital genes may shape COVID-19. Gift of Life members, who have long saved lives via transplants, now show us how everyday people can help the world beat a pandemic too."

Participants can also opt into short monthly surveys for the coming year, even if they have never had COVID-19. The researchers will study their de-identified data, to better understand how tissue match genes and other factors may figure in COVID-19 risks and outcomes.

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The new study furthers Gift of Life's efforts to help people and communities in need during the pandemic. The organization has increased capacity at the Dr. Miriam and Sheldon G. Adelson Gift of LifeBe The Match Collection Center to become a non-hospital based go-to for stem cell donations and contributed 10,000 specialized swabs to Baptist Health South Florida via Boca Raton Regional Hospital to be used for COVID-19 testing.

About Gift of Life Marrow RegistryThe Gift of Life Marrow Registry is a 501(c)(3) nonprofit organization headquartered in Boca Raton, Fla. The organization, established in 1991, is dedicated to saving lives by facilitating bone marrow and blood stem cell transplants for patients with leukemia, lymphoma, and other blood-related diseases. To learn more about Gift of Life or to make a tax-deductible donation, visit http://www.giftoflife.org.

About Rutgers Cancer Institute of New JerseyAs New Jersey's only National Cancer Institute-designated Comprehensive Cancer Center, Rutgers Cancer Institute, along with its partner RWJBarnabas Health, offers the most advanced cancer treatment options including bone marrow transplantation, proton therapy, CAR T-cell therapy and complex robotic surgery. Along with clinical trials and novel therapeutics such as precision medicine and immunotherapy many of which are not widely available patients have access to these cutting-edge therapies at Rutgers Cancer Institute of New Jersey in New Brunswick, Rutgers Cancer Institute of New Jersey at University Hospital in Newark, as well as through RWJBarnabas Health facilities.

Along with world-class treatment, which is often fueled by on-site research conducted in Rutgers Cancer Institute laboratories, patients and their families also can seek cancer preventative services and education resources throughout the Rutgers Cancer Institute and RWJBarnabas Health footprint statewide. To make a tax-deductible gift to support the Cancer Institute of New Jersey, call 848-932-8013 or visit http://www.cinj.org/giving.

About Root

Root (rootdeep.com) works to grow, diversify, and engage the ranks of blood and marrow volunteers earth's biggest group of living, contactable DNA data owners to save patients in need, honor their good will with good insights, and empower them to spark broader health science discoveries with researchers.

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Gift of Life, Root and Rutgers Researchers Launch COVID-19 Study - Patch.com

- Alliance to explore the utility of engineered exosomes developed with Codiaks engEx Platform to deliver gene therapy, gene editing and RNA technologies -

- Two-year, global research and option agreement covers up to five neuromuscular targets -

- Codiak is eligible to receive up to$72.5 millionin upfront and near-term license payments plus research funding -

CAMBRIDGE, Mass., June 22, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc.(NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, and Codiak BioSciences, Inc., a company at the forefront of advancing engineered exosomes as a new class of biologic medicines, today announced a global research and option agreement to design and develop engineered exosome therapeutics to deliver gene therapy, gene editing and RNA technologies for neuromuscular diseases. The engineered exosome approach offers the potential to effectively deliver genetic therapeutics without triggering the adaptive immune response.

The two-year agreement includes up to five neuromuscular targets. Codiak is eligible to receive up to$72.5 millionin upfront and near-term license payments plus research funding. Sarepta is granted an option to any of the candidates developed pursuant to the research alliance.

Exosomes are natural nanoparticles that serve as the bodys intercellular communication system, facilitating the transfer of a wide variety molecular payloads between cells. As they are derived from human cells, exosomes provide a unique advantage as a targeted delivery system for genetic medicines because they are inherently non-immunogenic. Through its proprietary, engEx Platform, Codiak can engineer exosomes with specific cargos and guide tropism to cell types of interest. The collaboration will leverage Codiaks exosome engineering capabilities with Sareptas expertise in precision genetic medicine to develop next generation therapeutics for patients with neuromuscular diseases that have few or no treatment options.

As Sarepta expands its leadership position in precision genetic medicine, this alliance with Codiak furthers our goal to deliver the most advanced therapies to patients. Codiaks engEx technology could potentially address some of the limitations of current treatment approaches and offers broad utility across Sareptas therapeutic modalities -- gene therapies, gene editing and RNA. Codiaks exosomes are engineered for precise tissue targeting and offer a non-viral delivery approach with non-immunogenic potential, thus opening up avenues for more efficient delivery and potential re-dosing, said Doug Ingram, president and chief executive officer, Sarepta Therapeutics.

The development of targeted delivery systems that enable repeat-dosing to select cell types has been a challenge for the emerging field of genetic medicine, especially in diseases of the muscle, said Douglas E. Williams, President and CEO of Codiak BioSciences. Engineered exosomes may offer a solution through their potential to selectively target muscle cells. We are excited to work with the world-class team at Sarepta to further build the engEx Platform and evaluate the potential of exosomes as next generation constructs incorporating gene therapy, gene editing and other nucleic acid payload modalities.

Under the terms of the agreement, Sarepta has the exclusive option to license Codiaks technology to develop and commercialize engineered exosome therapeutics for up to five neuromuscular targets. Sarepta and Codiak will collaborate to design exosomes that can deliver and functionally release select payloads, such as nucleic acids and gene therapy and gene editing constructs, in neuromuscular indications. If Sarepta elects to exercise its option on a target, Codiak will be responsible for research and preclinical development through IND preparation, and Sarepta will be responsible for clinical development and commercial activities. In addition to upfront, research funding and license payments, Codiak will be eligible to receive significant development and regulatory milestone payments and tiered royalties on future sales.

About engEx PlatformThe engEx Platform is Codiaks proprietary exosome therapeutic engine for engineering and manufacturing novel exosome product candidates designed to target multiple pathways throughout the body. Using this platform, Codiak can design exosomes with precisely engineered properties, incorporate various types of biologically active molecules and direct them to specific cell types and tissues. These exosomes engage targets by cellular uptake, membrane-to-membrane interaction or a combination of both mechanisms and are designed to change the biological functioning of the recipient cells in order to produce the intended biological effect. Codiak is building a broad pipeline of engEx product candidates that may have a transformative impact on the treatment of many diseases.

About Codiak BioSciencesCodiak BioSciences is harnessing exosomesnatural intercellular messengersto develop a new class of biologic medicines, exosome therapeutics. Utilizing our proprietary and versatile exosome engineering and manufacturing platform (engEx Platform), Codiak is developing exosomes with precisely engineered properties to engage pathways and deliver potent therapeutics to specific cell targets. We are building a broad pipeline of therapeutic candidates that may have a transformative impact on the treatment of many diseases, including in the areas of oncology, immune-based diseases, fibrotic disorders, neurological disorders and rare diseases. For more information, visithttp://www.codiakbio.com.

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 Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Sarepta Forward Looking StatementsThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the parties obligations and responsibilities under the agreement, potential payments and fees, potential neuromuscular targets and Sareptas option to any of the candidates developed pursuant to the research alliance; the potential benefits of the engineered exosome approach, including effectively delivering genetic therapeutics without triggering the adaptive immune response and selectively targeting muscle cells; the potential of exosomes to provide a unique advantage as a targeted delivery system for genetic medicines; and the potential benefits of the collaboration between Sarepta and Codiak, including the development of next generation therapeutics for patients with neuromuscular diseases that have few or no treatment options.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: the expected benefits and opportunities related to the collaboration between Sarepta and Codiak BioSciences may not be realized or may take longer to realize than expected due to challenges and uncertainties inherent in product research and development. In particular, the collaboration may not result in any viable treatments suitable for commercialization due to a variety of reasons, including any inability of the parties to perform their commitments and obligations under the agreement; success in preclinical trials does not ensure that later clinical trials will be successful; Sarepta may not be able to execute on its business plans and goals, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its product candidates to market, due to a variety of reasons, many of which may be outside of Sareptas control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates and the COVID-19 pandemic; and even if Sareptas programs result in new commercialized products, Sarepta may not achieve the expected revenues from the sale of such products; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect Sareptas business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Contacts:

Sarepta TherapeuticsInvestors: Ian Estepan, 617-274-4052, iestepan@sarepta.comMedia: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

Codiak BioSciencesKate Niazi-Sai, 617-949-5696, media@codiakbio.com

Link:
Sarepta Therapeutics and Codiak BioSciences Collaborate to Research and Develop Exosome-Based Therapeutics for Rare Diseases - GlobeNewswire

Andre Watson

SAN FRANCISCO (PRWEB) June 18, 2020

Vaccines currently in development face the dual challenge of overcoming the temporary immunity presented by coronavirus infection, and the SARS-CoV-2 viruss highly effective cloaking mechanism that effectively renders it invisible to the immune system.

Ligandals technology has been designed around the unique genetic signature of the virus, which has informed the development of a peptide nanoscaffold. This peptide prevents the virus from binding with human cells, halting infection. The peptide also simultaneously disables the viral cloaking mechanism, making the virus vulnerable to an immune response.

Andre Watson, CEO and Founder of Ligandal, says, I started Ligandal to create practical genetic medicine technology that solves the worlds most pressing health problems. We had been developing a way of training T-cells to attack cancer tumours, but when the COVID-19 pandemic began, I realised our technology would be effective at neutralising this single, virulent pathogen without requiring a gene therapy component. The beauty of our solution is that it can be used as treatment and vaccine. In infected people, the peptide will prevent viral entry and replication, while bolstering the immune response and formation of neutralising antibodies that can eliminate the virus. Other approaches may neutralise the virus, but many alternatives such as antibody therapies and viral-neutralising compounds will leave the body vulnerable to repeat infection. In those who havent been infected, the peptide will display critical immunoepitopes for antibody and T cell responses against the key parts of the virus necessary for forming a neutralising response. The peptide can also be used in conjunction with other treatments and vaccinesand may bolster the efficacy of spike protein vaccines in particularalthough that shouldnt be necessary if we achieve in vivo results suggested by the in silico modelling.

Adam Hamdy, a medical consultant and author, who recently joined the companys advisory board, says, The microbiological characteristics of SARS-CoV-2 make it extremely unlikely that current vaccine approaches, which rely on training the immune system but present key challenges with this virus, will offer anything more than partial protection at best. It was clear to me that any effective response to this virus had to target it directly while also bolstering immune response.

Importantly, Ligandals peptide has advantages over other technologies in development because it is room temperature stable, meaning it represents a genuinely global solution, both in terms of logistics and the storage of the medicine. It also has a low cost per dose once at mass production scale, which means global producton is entirely feasible. It can also move rapidly through preclinical and clinical studies given the accelerated global regulatory environment and simple at scale manufacturing process.

Andre Watson says, As hostile actors take note of the havoc caused by the SARS-CoV-2 virus, it is clear we need better ways to ramp up our biodefense capabilities. A rapid four-year conventional vaccine cycle to trial a single solution isnt going to be sufficient to meet future threats. Ligandal modelled its peptide within five hours of receiving a genetic sequence of the virus, and was ready to test its response in two months. We anticipate being ready to commence clinical studies later this year or very early next year. Our only limitation in getting this to the general public is how quickly we can move through the clinical studies.

Adam Hamdy says, A long term solution to the COVID-19 problem lies in genetic medicine. Ligandals peptide is an exciting leap forward in our ability to address and neutralise the virus directly. Unlike conventional vaccines, which only get one shot at proving efficacy, Ligandals peptide can be improved by rewriting its genetic code in response to novel viral variants, giving us the opportunity to rapidly iterate and keep at the problem until we get the answer absolutely right.

About Ligandal

Based in San Francisco, Ligandal is a genetic medicine company that uses nanotechnology to develop targeted and personalised therapies.

For more information visit http://www.ligandal.com

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Genetic Medicine will be the Solution to COVID-19, and Ligandal is Leading the way - PR Web