Search Results
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 …
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) …
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 …
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 …
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 …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… profile can help doctors select the proper medication or therapy and administer it using the proper dose or regimen. …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… may include surgery to remove the kidney, radiation therapy and chemotherapy. Aniridia: The treatment of aniridia … or when the diagnosis is made. Treatments include: vision therapy, physical, occupational and speech therapies. Special …
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 …