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News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… - and prostate tumors - might respond to PARP inhibitor therapy. The research team is now exploring the molecular …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… the course of the condition or for future development of drug therapies. This study represents the largest …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… and the development of small molecule chaperones as therapy for Gaucher disease and potentially parkinsonism. Dr. … laboratory is also utilizing new technologies to identify drug targets for GD and other lysosomal disorders, which may … neurons. This approach promises convenient and less costly therapy for GD, and may have therapeutic utility in PD. …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… underway. NIH investigators are developing ManNAc  as a therapy for GNE Myopathy. … to Collaborate with National Institutes of Health on Therapy in Late-Stage Development for GNE Myopathy (2018) NIH Launches Trial to Evaluate Drug for Rare Degenerative Muscle Disease Treatment  (2012) …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… can impact physical traits such as risk of disease or drug toxicity. In this paper (Surendren et al., 2022), … of proteins that are potentially related to adverse drug effects or other health outcomes.  This research was …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… in propionic acidemia, specifically systemic AAV gene therapy, a lead indication for the Platform Vector Gene Therapy (PaVe-GT) program. Currently, Dr. Shchelochkov works … Scharschmidt BF, Lee B, Marino M, Le Mons C. Barriers to drug adherence in the treatment of urea cycle disorders: …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… variant "actionable," that is, when there is a medical therapy that can be applied. "Actionable" might mean … genomics to help predict how a patient will respond to a drug, or pharmacogenomics - will bring about changes to …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… out of the lysosome. Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history … and collaborators have already obtained Food and Drug Administration approval for oral and topical cysteamine …