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Category Archives: Genetic Medicine

Age-of-onset information helps identify 76 genetic variants associated with allergic disease. – Physician’s Weekly

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.


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

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NIH to Provide $75M to Increase Diversity in Its eMERGE Network – Clinical OMICs News

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.

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

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

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

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

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

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

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

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 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.

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Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors:Ian Estepan,

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

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

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

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