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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
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- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Media Advisory
On December 7, 2022, the National Human Genome Research Institute will host a webinar to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report.
… This past month, the American Society of Human Genetics (ASHG) released the Human Genetics and Genomics Workforce Survey Report, which lays a … to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report. The panelists …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… and ethical uses of these technologies?  Do such clinical interventions reify or reduce already existing …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… data collection and analysis. Applications for the Human Genetics Scholars Initiative (HGSI) , a program that aims to advance diversity, equity, and inclusion in the human genetics and genomics workforce, began to be accepted on … Centers of Excellence in Genomic Science (CEGS) Lasker Clinical Research Scholars program Data Integration and …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social … promising genetic-based curative therapies safely into clinical trials.  NIH is working closely with the Centers …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… These findings, reported in the American Journal of Human Genetics , demonstrate the need to improve these AI tools … said Ben Solomon, M.D., senior author of the study and clinical director at the NIH’s National Human Genome Research … fellow who led the study. “There are not very many clinical geneticists in the world, and in some states and …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can … each step. … …  Step 1: Referral for participation in a clinical trial or a treatment  If you are referred to a …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… Project Grant Program ( PA-19-056 ). …  Since 2011, the Clinical Sequencing Evidence-generating Research (CSER) … using a person’s genomic information as part of their clinical care). However, there are many potential barriers to … researchers. …  NHGRI and the American Society of Human Genetics (ASHG) are delighted to announce that the ASHG-NHGRI …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings. A genotype-first approach to patient care … The study was published in the American Journal of Human Genetics . “We demonstrated that genotype-first research can …