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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes … used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … organ damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 …
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 … as part of an "Ask Me Anything" (AMA). … Clinical and research experts from the Undiagnosed Diseases Network (UDN) …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … the work were researchers from the National Human Genome Research Institute (NHGRI), the National Institute of Allergy …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … M.D., a staff clinician at the National Human Genome Research Institute (NHGRI), part of NIH. "Since starting …
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 … Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) (now the National Center for …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine … a more profound understanding of the biological basis of disease will pave the way for more effective ways to … Genetic Disorders, Genetic Disease, Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … and his colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). … old.</p> <p>In addition to participating in research, Mr. Hanson also pays it forward with his website -- …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a … specific tests and products by the National Human Genome Research Institute or the Office of Rare Diseases at the … your medical care. … Information on just about any disease can be obtained from the published scientific …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in …