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Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Other health issues include obesity and recurrent ear infections. Adults with achondroplasia may develop a …
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.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Venditti's review of the laboratory data; residing in a hospital; any patient who requires dialysis once or more/week …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
… how skin microbiome changes over time. These previously acquired skin samples had been sequenced using shotgun …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
Staff
Dr. Bettie Graham was the division director for NHGRI's Division of Extramural Operations.
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
The Genomics Landscape
In the February 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the December 2021 NHGRI symposium's success in confronting the difficult pasts of eugenics and scientific racism.