Search Results
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in immunology and … research program to understand the interplay between mitochondrial metabolism and the immune system. His NIH … research program involving patients with inborn errors of mitochondrial metabolism. The group studies two aspects of …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… molecules and pathways that influence skeletal growth and metabolism in general,” he said. In a conversation with …
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.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus … on human genetics, vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… mice and patients with MMA both have a tissue-specific mitochondrial dysmorphology and impaired mitochondrial function. In addition, these murine models have … Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Mitochondrial dysfunction in mut methylmalonic acidemia . …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… three years as an attending physician in Genetics and Metabolism at Valley Children’s Hospital in Madera, …
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. … neurodevelopmental disabilities specifically focusing on mitochondrial, neuroinfectious and neuroinflammatory … the MINI Section at NHGRI focuses on immune phenotyping of mitochondrial disease to better understand why infections …