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News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… … A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's … response. … Based on clinical data from patients with mitochondrial disease, the researchers created a mouse model … docs to be researchers, too... The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… The Metabolism, Infection and Immunity (MINI) Section at the … immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… guidance on research into genetic diseases that disrupt metabolism. “Dr. Venditti has demonstrated expertise in the … focuses on genetic conditions that affect the body’s metabolism. These disorders often delay normal development … guidance on research into genetic diseases that disrupt metabolism. … NHGRI has selected Charles Venditti, M.D., …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… the genetics, genomics and biochemistry of organic acid metabolism in model organisms, including roundworms, mice and … of papers that connect disease pathophysiology in MMA to mitochondrial dysfunction and prove the efficacy of gene … intermediary metabolism, particularly those that feature mitochondrial localization of the metabolic lesion. In the …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… increased numbers of mitochondria as well as mutations in mitochondrial DNA. This led researchers to discover that …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… C.P. (February 2008) Disorders of Intracellular Cobalamin Metabolism. GeneReviews at GeneTests: Medical Genetics … Seattle, 1997-2008. [ PubMed ] Chandler, R. J. et al. Mitochondrial dysfunction in mut methylmalonic acidemia. … with Homocystinuria. Disorders of Intracellular Cobalamin Metabolism An article published at Genereviews.org by David …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical … … Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical … … Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… manage, and counsel patients with inborn errors of metabolism. … Like the Medical Genetics Residency Program, … metabolic continuity clinic. The course Inborn Errors in Metabolism, a one semester course, is required for all … and biochemical diagnositics Kimberly Chapman, M.D., Ph.D. Mitochondrial diseases, metabolic disorders and …
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 …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… the human genome, which resides in the cell’s nucleus, the mitochondrial genome is tiny, just 17,000 letters of DNA. … That way, when the researchers sequenced the rodents’ mitochondrial DNA, they would know they were looking at … they received. Because each cell has many copies of the mitochondrial genome, the team carried out a very thorough …