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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- 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
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… Eric Green, M.D., Ph.D. … This issue of The Genomics Landscape comes at an especially difficult time, with the events of the last week in cities across the United States on top of the illness, … leading up to the 30th anniversary of the launch of the Human Genome Project in October 2020. I encourage you to …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… highlighted the need to further explore initial findings in non-European populations. The Population Architecture … ( RFA HG-12-010 and RFA HG-12-015 ). The first phase of PAGE examined putative causal genetic variants across … Staff … The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … Cri du chat syndrome - also known as 5p- … low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry typically becomes less apparent …
Diversity Center
The University of Texas Rio Grande Valley (UTRGV) has established a Diversity Center for Genome Research that will build UTRGV’s genomics research capacity by 1) expanding genomic research capabilities and discoveries in two innovative research projects; and 2) enhancing the size and quality of the available genomics workforce.
… The University of Texas Rio Grande Valley (UTRGV) has established a … 1) expanding genomic research capabilities and discoveries in two innovative research projects; and 2) enhancing the … the cadre of individuals with knowledge and skills in human genomics and foster genomic literacy in the local, …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… a “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory … diseases … Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder … genes to disease diagnosis. Researchers from the National Human Genome Research Institute have discovered a new …
About Genomics
Appropriate use of population descriptors in scientific research is critical for the advancement of genomic science and human health for all.
… Report: Using Population Descriptors in Genetics and Genomics Research In response to a request from the National Institutes of Health, the National Academies assembled an … has become far more accessible, and research using human genetic data has grown exponentially over the past …
Fact Sheet
Diversity among genomics research participants is essential for improving the health of everyone.
… What makes human genomes diverse? While humans are similar in most ways, our biological processes make each of us unique. Many aspects of those processes are encoded in … data among international researchers. The Human Cell Atlas aims to be a resource that includes in-depth …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… a genetic condition that affects a person’s development, in particular their ability to learn and their social … gene on the X chromosome. Because males have only one copy of the X chromosome, they are more likely to show severe … the mutated gene compared to females (who have two copies of the X chromosome). … Fragile X syndrome is a hereditary …
Fact Sheet
Enhancing the diversity of the research workforce fosters innovation and creativity.
… with disabilities are significantly underrepresented in biomedical research and clinical science. Individuals … can positively influence innovation and interpretation of research and health equity. The National Human Genome Research Institute (NHGRI) is undertaking a …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… … A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus … disease. The drug, miransertib, was well tolerated, even in children, according to a National Institutes of Health … determine the correct dose of the medicine. NIH's National Human Genome Research Institute (NHGRI) researchers and …