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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. …
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 …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
File
… and developmental disabilities • Susceptibility to infection NICHD Genomic Clinical Variant Expert Curation …
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.
For Teachers
Lesson plan based on an award-winning DNA from the Beginning website, an animated primer on the basics of DNA, genes and heredity.
… in RNA. How does a retrovirus carry out the process of infection? What type of enzyme is necessary for reverse …
DIversity Center
Florida International University establishes a Diversity Center for Genome Research.
… Health Outcomes Lead: Marianna K. Baum, Ph.D., RD HIV infection, hypertension, and obesity are major comorbidities …
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.
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.