Search Results
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… biochemical pathway called the folate one-carbon metabolism (FOCM) pathway. They knew that abnormally high … underlying high homocysteine levels - and methionine metabolism gone awry - are not well defined. Dr. Williams and … population for decades. They also measured methionine metabolism - the ability to convert methionine to …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… and hyperhomocysteinemia. Session #72: Inborn Errors of Metabolism: Novel Disorders, Models, and Observations; Hilton … Protein Losing Enteropathy: An inborn error of lipid metabolism due to DGAT1 mutations. (Metabolic Disorders) … Faith Pangilinan: A common polymorphism in HIBCH is a cobalamin-independent determinant of methylmalonic acid …
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.
… in the December 2017 issue of M olecular Genetics and Metabolism . … A single mutation in the Gaucher disease gene, … impacts disease onset and course . Molecular Genetics and Metabolism ,Volume 122, Issue 4, 198-208, December 2017. … A …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… and Molecular Investigations into Ciliopathies Amino Acid Metabolism Clinical and Laboratory Study of Methylmalonic … of Primary Immunodeficiency Diseases Inborn Errors of Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Inborn Errors of Metabolism Diagnosis and Treatment of Patients With Inborn …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… and systems in the mouse - such as the immune system, metabolism and stress response - are so different from those …
Educational Resources
Cytoplasm is the gelatinous liquid that fills the inside of a cell. It is composed of water, salts, and various organic molecules.
… of water, salts, and various organic molecules. Some intracellular organelles, such the nucleus and mitochondria, …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin disorders/Propionic Acidemia, Chediak-Higashi …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… aggregation and clotting. The NBEAL2 protein functions in intracellular vesicle formation and trafficking, presumably …
Staff
Dr. Sharon Milgram is an adjunct investigator in the Genetics and Molecular Biology Branch at the National Human Genome Research Institute.
… by binding the N-terminal domain of RGS2 and the third intracellular loop of GPCRs. Nature Cell Biol , 7:405-411. …
Educational Resources
Mitochondrial DNA is the small circular chromosome found inside mitochondria.