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News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… such as liver enlargement, blood clotting problems, or bone pain. About 10 years after Sidransky started studying …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… enlarged liver or spleen, decreased platelets, anemia, bone pain or fractures, and generalized fatigue. Symptom …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… other disorders, including inflammatory/autoimmune and bone/skeletal diseases, and Alzheimer's disease. While each …
File
… Approach. Front Oncol. 2019 Dec; 9:1429. 207. Otaify GA . Bone -Specific Therapeutic Modalities for Ge netic Skeletal … Ganesh S. Isolated Abducens Nerve Palsy Following Temporal Bone Fracture in a Child. Taiwan J Ophthalmol. 2020. … on ‘ The role of the standard cytogenetic study of bon e marrow cells in the diagnosis of acute lymphoblastic …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… Cbfbeta interacts with Runx2 and has a critical role in bone development. Nature Genetics , 32: 639-644, 2002. [ …
Fact Sheet
Diversos enfoques se dirigen a las células madre sanguÃneas para aliviar o reducir los sÃntomas de la anemia de células falciformes.
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
NHGRI Director
A list of videos featuring NHGRI Director Eric Green, M.D., Ph.D.
… Proteus syndrome, a rare disorder that causes tissue and bone to grow out of proportion to the body. Hosted by the …