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A transcriptome is a collection of all the gene readouts present in a cell.
… if an unknown gene is expressed in fat tissue but not in bone or muscle tissue, the unknown gene may be involved in …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… (kidneys, liver, spleen etc). Hand x-ray to determine bone age. Dual energy x-ray absorptionometry (DEXA) scan to assess bone density. For the DEXA scan, the patient lies still on a …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… NIH researchers discover gene for rare disease of excess bone tissue growth Notable accomplishments in genomic …
The Genomics Landscape
In the May 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the Human Genome Project receiving the 2017 Prince Mahidol Award.
… Other Cancers NIH Researchers Crack Mystery Behind Rare Bone Disorder Genetically Altered Broadly Neutralizing …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… plays a role in cell signaling, the immune response and bone formation.) Available data show that the newly …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.