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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 …
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. … …
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 …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
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 …
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. … This study collects genetic and … 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) …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice Notable …
Careers and Training
The Health Disparities Unit (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a postdoctoral fellow interested in the study of the intersection of genomics, social determinants of health and health inequities.
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 …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… field of genomics.   … In December 2018, the U.S. Food and Drug Administration (FDA)  announced  that they were … particularly to diagnose inherited disorders and to target drug therapy in cancer. However, more robust aggregation of …