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News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… On July 28-29, 2014, the National Human Genome Research Institute (NHGRI) convened geneticists, biologists, … provide expert advice on the future of its flagship Genome Sequencing Program (GSP). … includes the Centers for Mendelian Genomics program, the Clinical Sequencing Exploratory Research (CSER) program and …
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… Genomics research is a quintessential team science. Contributing to … 31 retirement of Robert Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center (NISC) in Rockville, Maryland. … sequence reads for 76 researchers using the Sanger dideoxy sequencing method. That figure has spiked in the last six …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… leadership from researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes … and for using genome sequence as a routine part of clinical care in the future. Many research groups have … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
Event
Pre-Application Webinar for the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) Funding Opportunity Announcement
… Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed)  NOT-HG-23-003 : Notice of … Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in … Predicting Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment trials. … Identification of GNE gene disease-causing variants by DNA sequencing can confirm the diagnosis. GNE Myopathy patients …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Vanderbilt University Medical Center Translating the Clinical Knowledge of Mendelian Diseases to Real-World EHR … (ARDI): Advancing Genomic Medicine through rare diseases research in Africa Gabor T. Marth Martin Tristani-Firouzi … University of California, San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… I plan to provide regular updates about NHGRI and genomics research, news, and events. Follow and engage with me via @ … Ben Solomon, NHGRI Clinical Director, with NHGRI Director Dr. Eric Green and … for leading the institute’s intramural Clinical Research Program, providing oversight and guidance to NHGRI …
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… Ethical, Legal and Social Implications (ELSI) Research Program at the National Human Genome Research … factors to consider. Now, researchers and clinicians are sequencing human genomes faster than ever, so considering the … question where there has been a lot of debate within the clinical genomics, pediatric and bioethics communities. …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions. … The National Institutes of Health will fund clinical trials to assess the benefits, applicability and … treatments. These projects build upon the first phase of research from the IGNITE Network, which the National Human …