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Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
metabolism is a sequence of chemical reactions that take place in cells in the body. … of nutrients and the generation of energy in our bodies. inborn errors of metabolism (iem) are a group of disorders that …
Clinical Research
The MINI Study is a clinical research study exploring how Inborn Errors of Metabolism affect the function of the immune system.
… is a clinical research study at the national institutes of health (nih) exploring how inborn errors of metabolism (iem) affect the function of the immune …
Staff
Dr. Charles Venditti is a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch.
… venditti received a s.b. from the massachusetts institute of technology in 1988 and was an m.d., ph.d. scholarship … of numerous professional organizations in the fields of inborn errors of metabolism , genetics and gene therapy and serves …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… foods" are designed to help manage patients with rare inborn errors of metabolism (iems), and can help prevent serious and …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… (mgb) 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 …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch.
… and equivalent with an m.d.) from the royal college of surgeons in ireland. after completing a combined residency … a translational research program involving patients with inborn errors of mitochondrial metabolism. the group studies two …
Research Training
One-year residency in Medical Biochemical Genetics that trains physicians to diagnose, manage and counsel patients with metabolic genetic disorders.
… in a more typical biochemical genetics program; it is one of the few programs that emphasizes clinical research, and it … a journal club and seminars in genetic topics. the course inborn errors in metabolism , a one semester course, is required for …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… genetics program; emphasizes clinical research, one of the few programs to do so; and grants access to the vast … genetics; developmental biology and human malformations; inborn errors of metabolism ; and current concepts in clinical …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… disease, the researchers created a mouse model of mitochondrial disease in t-cells. t-cells play important … the nih mini study: metabolism , infection and immunity in inborn errors of metabolism … mutations reduce protective immunity … …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… as well as in the diagnosis, management and counseling of patients with genetic disorders. participants gain broad … genetics; developmental biology and human malformations; inborn errors of metabolism ; and current concepts in clinical …