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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 …
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
… The NIH Metabolism, Infection and Immunity (MINI) Section invites people with mitochondrial disease who have already received the COVID-19 … and experiences after the COVID-19 vaccine for people with mitochondrial disease. If you have previously completed our …
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. … Projects performed … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. … The Medical Genetics …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
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 …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.