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.
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. Ferreira was 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 …
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 … Now ! … Clinical Research Studies … Meet the Team … Metabolism, Infection and Immunity (MINI) Section … MINI …
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. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
… 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 …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
… 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 …