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Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… young children - easily overwhelmed by bacterial infections. A baby born with sickle cell disease inherits a …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… Clinic … University of Cincinnati/Cincinnati Children’s Hospital Medical Center … The University of Texas Health …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… inherited. Eighty percent of individuals with PCT have an acquired disease that becomes active when factors such as … sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual …
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.
… inflammation and act as the first line of defense against infections. The researchers then analyzed the genome …
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.
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.
… University Alicia Martin, Ph.D., Massachusetts General Hospital, Harvard Medical School and Broad Institute … Americans in 2020 than official tallies show Breakthrough infections in vaccinated people less likely to cause ‘long …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… nevertheless, affected patients do not get viral infections because viruses need glycans on their own … glycoproteins in order to replicate and produce secondary infections. Section members also helped to describe the first …
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.