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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Diversity in the Genomics Workforce
The Training, Diversity, and Health Equity (TiDHE) office along with other NHGRI colleagues have developed the Identifying and Evaluating Trainee Outcomes Toolkit to help programs from all over the country learn more about best practices for evaluating training programs related to genomic workforce diversity, research, and genomic workforce programs.
… The Training, Diversity, and Health Equity (TiDHE) Office, Ripple Effect … country incorporate best practices for evaluating trainee and program success. By using this toolkit, programs can … including undergraduate, graduate, postdoctoral and clinical trainees, as well as trainees who are pursuing …
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 …