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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare … importantly, many of these patient groups are accelerating research on rare diseases by recruiting patients with the … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … United States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated … and Neglected Diseases program , to create an integrated research pipeline to jump start the development of new …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful … (GARD)  was created in 2002 by the National Human Genome Research Institute (NHGRI) and the former Office of Rare … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Jeannine Mjoseth … Researchers at the National Human Genome Research Institute (NHGRI) and their collaborators are … the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. … The National Human Genome Research … part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple … approaches and technologies for multiple disease research communities and the wider biomedical research …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending … explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is characterized by multiple, painful …