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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
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, Heart Disease, Gene-environment Interactions … A complex disease …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … are millions of variants in the human genome, and most are rare and do not have a big impact on health. This will likely … Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI). "People are jumping to the …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) has awarded National Human Genome Research Institute (NHGRI) senior investigator Bill Gahl, … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… for disabling pansclerotic morphea, a severe inflammatory disease.  … Researchers at the National Institutes of Health … colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as … study was led by researchers at the National Human Genome Research Institute (NHGRI), part of NIH, in collaboration …
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 … GARS gene (see Gene Discovery Opens Door to Further Research In Inherited Neurological Disorders [News Release]) … - Genetics Home Reference National Organization for Rare Disorders (NORD) Online Mendelian Inheritance in Man  …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… by a large community of investigators; (2) facilitate research into the etiology of undiagnosed diseases, by … to investigate the pathophysiology of these new and rare diseases. In 2008, the NIH Undiagnosed Diseases Program … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of … - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a … 5. … Cri Du Chat Syndrome,genetic Condition, Rare Disease, Chromosome 5 … Cri du chat syndrome is a rare …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research. … Ellen Sidransky never thought she would study …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … (NIH) launched an effort, called the Therapeutics for Rare and Neglected Diseases (TRND) , program, to create an integrated research pipeline to jump start the development of new …