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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
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial advances in … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  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.
… … The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on … and CMG programs aim to discover the genes and genomic variants - spelling differences in DNA - that cause or …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an … in the Office of the Clinical Director, National Human Genome Research Institute. "The toolset we developed …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs address a …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following … helped define NHGRI's niche: developing general paradigms and approaches, and creating data resources and tools. The … to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk … disease. APOL1 is important for the immune system and variants of the gene are linked to increased risk of chronic … on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As … this reorganization, the Center for Research on Genomics and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI …
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 … Center (GARD)  was created in 2002 by the National Human Genome Research Institute (NHGRI) and the former Office of … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare … Sciences Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … A longstanding medical …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… announced today that Baylor College of Medicine in Houston and the Medical College of Wisconsin in Milwaukee will be … provide sequencing of the protein-coding portion of the genome, or exome. The clinical sequencing results will meet … for patients by analyzing DNA sequence, which can reveal variants in patients' genome that may be the cause of a …