Search Results
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 …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
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 …
Staff
Dr. Bettie Graham was the division director for NHGRI's Division of Extramural Operations.
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
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… seen at the NIH Clinical Center, researchers looked for infections and cancer as the cause. After those were ruled …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… Coincidentally, his hotel was across the street from the hospital where Rohith was being treated so he set up a …