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- Genetic Architecture of Complex Traits1
- Genome Technology Program4
- 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 Awards2
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… that are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations. … … co-author of the study and senior investigator in the Genetic Disease Research Branch at NIH's National Human …
News Release
Two grants will support studies on genomic literacy among Africans relating to research conducted in Africa by African investigators.
… on genomic literacy among Africans as it relates to research conducted in Africa by African investigators. The three-year grants are part of the … consent form for a diabetes study that better relays genetic concepts in terms that people from both rural and …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … leading to human disease. … A major focus of the branch's research lies in understanding how disruptions in signaling …
News Release
The largest genomic study on type 2 diabetes in Africans to date has recently been published in Nature Communications and reports the most recent findings of the ongoing Africa America Diabetes Mellitus (AADM) study that has been led by Dr. Charles Rotimi for over two decades.
… of the Genomics of Type 2 Diabetes in Africans Identifies African-specific Risk Locus … The largest genomic study on …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… The goal of the National Human Genome Research Institute's (NHGRI) Division of Intramural Research … high-risk strategies that utilize a wide range of genomic, genetic, computational, and high-throughput methodologies. … Program has become a model for successfully translating genetic and genomic discoveries into the clinical care arena. …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … To gain the requisite laboratory … Rotation Sites: NIH Clinical Center National Human Genome Research Institute (NHGRI) National Institute of Allergy and …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… The National Human Genome Research Institute (NHGRI) offers a three-year residency … physicians to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … fellow at the University of Virginia Cardiovascular Research Center and the University of Virginia Center for …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for …
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
… … Panelists … Panelists Cont'd … The National Human Genome Research Institute (NHGRI) and the Smithsonian National Museum of African American History & Culture (NMAAHC) present the third … Historically Speaking: Next Generation of Black Leaders in Genetic Science ," a panel of African American biomedical …