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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.
… (IEM) are a group of disorders that causes a block in a metabolic pathway leading to clinically significant … they also have the disorder. We recommend talking to your metabolic specialist and/or genetic counselor to determine … based (1) the position of the defective enzyme within the metabolic pathway and (2) whether or not there is any …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… The Metabolic Medicine Branch (MMB) houses clinical and … with genetic disorders. … The research conducted in the Metabolic Medicine Branch involves interconnected laboratory … gene addition therapy and gene editing approaches to treat metabolic disorders, study immune manifestations 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.
… selected Charles P. Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural … in the basic, translational and clinical aspects of metabolic diseases,” said Charles Rotimi, Ph.D., NHGRI … tenure in 2016, he became a senior investigator in the Metabolic Medicine Branch. Currently, Dr. Venditti is also an …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
… genetic mutations that lead to perturbations in normal metabolic pathways and cause disorders such as cancer and birth … the constituents of folate, vitamin B12, and homocysteine metabolic pathways. The team also established that genetic …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… not able to provide a "first time" diagnosis or regular metabolic care. … Once you contact our team members, you will … studies such as a DEXA or MRI scan, energy expenditure or metabolic testing, and possibly a skin biopsy (if one has not …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… cancer, and shed light on the role of mitochondria and metabolic pathways in cancer. The results also support the growing … Content … Rare kidney tumor provides insights on role of metabolic changes in cancer … TCGA researchers have found …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated … and low muscle tone, kidney problems, poor vision, and metabolic instability causing them to become seriously ill, … to learn more about the genetic causes of these inherited metabolic disorders and the medical complications associated …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … skills in the care and clinical research of patients with metabolic disorders. The residency program includes many … sessions, courses, seminars, biochemical journal club and metabolic continuity clinic. The course Inborn Errors in …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.