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Genetic Disorders
About Achondroplasia
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 …
Clinical Research
Clinical and Basic Investigations of Methylmalonic Acidemia Study
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
NIH researchers find thousands of new microorganisms living on human skin
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
Cancer drug reduces pain, improves symptoms in people with Proteus Syndrome
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
Genetic Disorders
About Thalassemia
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
News Release
NIH researchers tackle thorny side of gene therapy
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
Staff
Bettie J. Graham, Ph.D.
Dr. Bettie Graham was the division director for NHGRI's Division of Extramural Operations.
News Release
A protein’s unique flexibility may help it respond when viruses attack
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
The Genomics Landscape
NHGRI symposium confronts difficult pasts of eugenics and scientific racism
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.
The Genomics Landscape
20 years later, genomicists remember the draft human genome sequence
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… standards First molecular profiles of severe COVID-19 infections NIH-funded study to evaluate drugs prescribed to … have prevented hundreds of millions of coronavirus infections Experts identify steps to expand and improve …