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Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… an inherited disorder, and therefore not caused by injury, infection or any other external or environmental factors. …
File
… and developmental disabilities • Susceptibility to infection NICHD Genomic Clinical Variant Expert Curation …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… such as oncology, cardiology, psychiatry, neurology, infection diseases, and pain control. Application of real …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… I. 1997. Divergent patterns of progression to AIDS after infection from the same source: human immunodeficiency virus … and detection of virus reservoirs and compartments of HIV infection. Curr. Opin. Microbiol. 6(4): 410–416. Nickle, D. … random genetic drift on HIV-1 env evolution during chronic infection. Genetics 166(3): 1155–1164. PMCID: PMC1470792. …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… his family's ordeal. What followed the next day was an eye infection, a high fever and rash; then a downward spiral with …