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 …
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 – … Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, …  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us …
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 … cases involving patients who are referred to the NIH Clinical Center. Among the featured researchers are Bill … more broadly. … Genomics Research Researchers optimize genetic tests for diverse populations to tackle health …
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 … centers. … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) …
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 … volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … such as diabetes and high cholesterol, as well as for genetic testing. Participants get the results of all their …
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 … in the future. … ADHD often appears to run in families, and research studies have suggested that there may be a … contributing to ADHD to improve treatment in the future. … Clinical Research …
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 …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division … Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric diseases and …
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 …