Search Results
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 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.
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 …
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.
Policy Issues
Synthetic biology is a field of science that involves redesigning organisms for useful purposes by engineering them to have new abilities.