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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 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
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… Jeannine Mjoseth … The Genetics/Genomics Competency Center (G2C2), a free, online collection of materials for self-directed learning in genetics and genomics, now … Ethical, legal and social implications Genetics and disease Implementation of pharmacogenetics/pharmacogenomics …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… The Center for Research on Genomics and Global Health (CRGGH) … human genetic variation and population differences in disease distribution, with the ultimate goal of informing … models that will explore the patterns and determinants of common complex diseases in populations in the United States …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… recover the cost of developing and producing treatments for these diseases. Another reason neglected diseases are not … the United States with high rates of poverty.  … The most common type of neglected diseases are tropical diseases. Many … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior … July 12, 2016 NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… or protect against the disease. The NIH awarded grants for using innovative new technologies and computational … $24 million over four years, go to eight academic medical centers that have been at the forefront of research in … that affect not only specific families, but that may be common to specific ethnic groups. (NIA grant U01AG049507)  …
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… Loan Repayment Program, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases Network. Her research … the diversity of the biomedical workforce and leveraging genomics to improve human health. Ms. Colley received her … F, Hindorff LA, MacArthur JAL. A standardized framework for representation of ancestry data in genomics studies, with …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… Protections (OHSRP) to create a network of resources for the investigator wishing to conduct clinical research. … accompanying consents and support documents in preparation for submission to the IRB for initial review. Assistance with writing, editing and …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … copper. Many foods contain copper, and it is important for people to have a small amount of copper in the body. … can lead to organ damage that may cause death. Other names for Wilson disease include copper storage disease, …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear … of laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA …