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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 …
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.
… of peoples’ DNA that resulted in measured differences in metabolism. For many of these regions, they were able to …
Educational Resources
Mitochondrial DNA is the small circular chromosome found inside mitochondria.