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, …
15 Ways Genomics Influences Our World
Genomics is establishing more robust methods for DNA-based forensic analyses.
… the generated DNA profile will often include markers from mitochondrial DNA and the Y chromosome. Children only inherit mitochondrial DNA from their mother, and sons only inherit … Y chromosome from their father. One example of the use of mitochondrial DNA is the work of Dr. Mary-Claire King  with …