Search Results
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to NHGRI scientists working to develop better … approaches and improved medical management strategies for genetic disorders. At the heart of the OCD mission is the … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of … the lack of openly accessible knowledge bases that capture genetic variants, their phenotypic and functional effects and …
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.
… Bianchi, M.D., NHGRI, Panelist 2024 ACMG Foundation Awards and Presidential Plenary Session: Inquiry and Innovation – How Far Have We Come and How Far Can We Go? March 16, 2024, 10:15–12:15 p.m. … Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… With the numerous ongoing key collaborations between ASHG and NHGRI, I look forward to working closely with Amanda in … will receive monthly emails about funding opportunities and other relevant announcements. All the best,  … The evolution of human altriciality and brain development in comparative context Gómez-Robles et …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of … ADHD often appears to run in families, and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… DNA sample from you, sequencing most or all of your genes, and comparing that to what we know about your personal and family health histories. We look at genes related to a … of conditions, including heart disease, breast cancer, and hearing loss. … volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate … the rare disease space with a focus on regulatory medicine and clinical trials in Mendelian disorders. The series will … research with the underlying theme that genetics is both a diagnostic and therapeutic specialty.  Topics may include …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… History Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE myopathy. … are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is … disorder that causes progressive skeletal muscle atrophy and weakness. Previous names include hereditary inclusion …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Clinical geneticist to lead NHGRI’s clinical genomics research efforts … Solomon, M.D., to lead the institute’s intramural Clinical Research Program , which provides oversight and guidance to NHGRI scientists and physicians working to … NHGRI appoints Dr. Benjamin Solomon as clinical director …