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Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… tools to improve the diagnosis, treatment and prevention of disease to foster next-generation healthcare. … The Center … Intramural Research Program to foster the development of cutting edge genomic and informatic approaches to health. The investigators in CPHR study a broad spectrum of disorders, with a range of heritability from common …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… and Screening Technology laboratory within the Division of Pre-Clinical Innovation at NCATS. His postdoctoral … effort in early-stage translation. Prior to the formation of NCATS, in 2004 Inglese co-founded the NIH Chemical … from Pennsylvania State University, under the guidance of chemist and enzymologist Stephen J. Benkovic, Ph.D., where …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Ferreira went to medical school at the National University of Asunción, completed an Internal Medicine residency at Rush … (SIMD NAMA). He also teaches the MEDI 507 course on Inborn Errors of Metabolism offered by the Foundation for Advanced …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… She completed her pediatric residency at the University of Miami/Jackson Memorial Hospital and went on to the University of California in San Diego to complete her medical genetics … three years as an attending physician in Genetics and Metabolism at Valley Children’s Hospital in Madera, …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI. She earned her … the MMA natural history protocol led to the recognition of errors in the design and implementation of medical nutrition … worldwide. She helped expand the phenotypic spectrum of inborn errors in the propionate oxidation and intracellular …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… does not smell.  … Trimethylamine builds up in the body of patients with trimethylaminuria. The trimethylamine gets … … People with trimethylaminuria have an impaired version of the enzyme flavin-containing monooxygenase 3 (FMO3). This … N-oxide. FMO3 is produced by the liver and is a member of a family of similar enzymes responsible for metabolizing …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… investigator in the Organic Acid Research (OAR) Section of the Metabolic Medicine Branch in NHGRI. He earned a bachelor of science degree in biology from Saint Joseph’s University, a master of biotechnology degree from the University of Pennsylvania, …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… (CRGGH) uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, … genes interact with "new" environments in the evolution of common complex traits. … View a list of publications led … in 225 genes associated with the absorption, distribution, metabolism and excretion (ADME) of pharmaceutical drugs. Gene …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… in 1973 and a Ph.D. and M.D. from Baylor College of Medicine by 1982. After completing Internal Medicine … residency at Baylor, Dan moved to the National Institutes of Health (NIH) in 1985. He served as Scientific Director of the Division of Intramural Research of the National Human …
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. … She completed her medical training from the University of Maryland in Baltimore; residency in pediatrics from the … Disabilities from the Johns Hopkins School of Medicine and Kennedy Krieger Institute, respectively, …