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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
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … 75,000 people carry the abnormal gene that will cause them to develop the disease. There is no cure for this fatal … gene, the repeat occurs over and over again, from 40 times to more than 80. This defect causes the resulting huntingtin …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… will take place in Stanford, California, on July 17, 2018. To stay informed about our strategic planning events, please … robust clinical evaluations, the UDP employs cutting-edge genomic analyses, such as scans for single-nucleotide … Diseases Network (UDN)  was established by the NIH Common Fund. Growing out of the revolutionary work of the …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … brain. This ongoing accumulation causes progressive damage to the cells. In children, the destructive process begins in … The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach out. Eventually, the child …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the United States. … chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN … most challenging medical mysteries. Supported by the NIH Common Fund , UDN uses genome sequencing in the clinic, along …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… in society, and NHGRI remains more committed than ever to facilitating the use of genomics for addressing all … – ENCODE was able to develop an updated and much-improved genomic encyclopedia, expanding its provision of critical … here , once available. …  Recently, the International Common Disease Alliance (ICDA) released their recommendations …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify and study genes that contribute to cancer … or production of tumors-tumorigenesis-can result from genomic alterations that are inherited or alterations that … susceptibility loci, particularly for aggressive forms of common cancers. This involves using both linkage and …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through … of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and … many of which are involved in immune response to invading pathogens. The study - Dense genotyping of …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… a (240) 274-6777 o covidcode@nih.gov . This study aims to learn more about the genetic contributions to the severity of COVID-19. We hope to use … more about the genetic contributions to the severity of disease of COVID-19. … The goal of this study is to learn …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … genome are associated with disease risk. In the case of common diseases, such as diabetes, many genetic changes and …