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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 …
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.
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.
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
Research Funding
The Knockout Mouse Phenotyping Project (KOMP2) collaborates with the International Mouse Phenotyping Consortium (IMPC) to knockout and characterize all protein-coding genes in the mouse genome.
… to confirm pathogenicity, susceptibility or resistance to infection and accelerate research and discovery.  KOMP2 …
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 …