Search Results
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… Disease Program. Inspired by her postdoctoral work on mitochondrial stress she joined the Organic Acid Research … in the propionate oxidation and intracellular cobalamin metabolism, and the discovery of new genes in these pathways, … P, Garone C, Wang C, et al. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… M, Park H. Kim K-Y, Sack MN, Kastner DL, Siegel RM. Mitochondrial reactive oxygen species promote production of …
Educational Resources
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions.
… to power the cell's biochemical reactions. … Mitochondria, Mitochondrial DNA, Cell Biology, Adenosine Triphosphate, ATP … small chromosomes. Generally, mitochondria, and therefore mitochondrial DNA, are inherited only from the mother. … …
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 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 …
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 …
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 …
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.
… Defects in the Inborn Errors of Vitamin B12 (cobalamin) Metabolism David S. Rosenblatt, M.D. 10:30 - 10:45 a.m. … Elucidating Regulatory Cross-Talk Between Folate and Thiol Metabolism Can Lead to Improved Treatment in Classical …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Her research focuses on disorders of sialic acid metabolism and of lysosome-related organelles. Sialic acid is … targeted primarily to mitochondria. Molecular Genetics and Metabolism , 100: 149-154. 2010. [ PubMed ] Kurochkina N, …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.