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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
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 … diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one … NIH, which is part of the U.S. Department of Health and Human Services, established the Office of Rare Diseases …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on … to document and interpret the non-random distribution of human genetic variation, as well as to understand human …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… and Introduction Eric Green 8:40 - 9:00 a.m. Statement of Meeting Goals Elise Feingold Adam Felsenfeld Part I: … the Stage Visions of the Future: What will the field of genomics look like in 5-10 years? How will it get there? 9:00 … Discovery and Interpretation of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Benowitz … Six new grants from the National Institutes of Health (NIH) will support researchers to develop new … of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National … Pazin, Ph.D., program director in the NHGRI Functional Genomics Program. "For variants sitting outside the coding …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, … disease (or condition), when discussed in the context of genetics, reflects a disorder that results from the …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… Eric Green, M.D., Ph.D. … I had the pleasure of giving the opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long summit is designed …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. … CMT is an …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… compared to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to large … the use of a single reference human genome sequence.  … Genomics is constantly evolving and advancing, including the …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… severe health burdens on the world's poorest people. Many of these conditions are infectious diseases that are most … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … 13 million people, mostly in Latin America. Hookworm. Human hookworm infection is caused by intestinal worm …
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.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … pressure as an adult. Learning about the health history of your family and sharing this information with your health … can help you learn whether you have an increased chance of getting some common diseases. Your health care provider …