Search Results
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… receptor regulates the NLRP3 inflammasome through intracellular Ca2+ and cAMP. Nature  492:123-127, 2012. [ …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… as an attending physician in the Division of Genetics and Metabolism at Children's National Medical Center. In 2019, he … He also teaches the MEDI 507 course on Inborn Errors of Metabolism offered by the Foundation for Advanced Education … to the best paper published in Molecular Genetics and Metabolism. … The Skeletal Genomics Unit focuses on using a …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… in 225 genes associated with the absorption, distribution, metabolism and excretion (ADME) of pharmaceutical drugs. Gene …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section, at NHGRI. … A. ST3GAL5-related disorders: A deficiency in ganglioside metabolism and a genetic cause of intellectual disability and … with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section. … Dr. …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… The Metabolism, Infection and Immunity (MINI) Section at the … - Peter McGuire, M.D., Principal Investigator … Metabolism, Infection and Immunity (MINI) Study: A … Research Studies … Meet the Team … Additional Resources … Metabolism, Infection and Immunity (MINI) Section … MINI …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… connect genetic variants in genes involved in vitamin B12 metabolism to neural tube defects. A major focus of the Brody … laboratory involves the study of folate and vitamin B12 metabolism. This "pathway" is central to DNA metabolism, DNA methylation, and approximately one hundred …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Remethylation Defects in the Inborn Errors of Vitamin B12 (cobalamin) Metabolism David S. Rosenblatt, M.D. 10:30 - 10:45 a.m. … enzymatic defects in the propionyl-CoA and vitamin B12 (cobalamin) metabolic pathways. This meeting will bring …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… investigates rare human genetic disorders and associated intracellular processes in order to gain insight into the … Her research focuses on disorders of sialic acid metabolism and of lysosome-related organelles. Sialic acid is … using patients' cells in order to examine defective intracellular trafficking. These results will be instructive …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… Among the most well-known are pathways involved in metabolism, in the regulation of genes and in the … or a change in the cell. … Biochemistry, Gene Expression, Metabolism, Medication … A biological pathway is a series of …