Search Results
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 …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… cues, cells send and receive signals through biological pathways. The molecules that make up biological pathways … regulation of genes and in the transmission of signals. Metabolic pathways make possible the chemical reactions that occur in our bodies. An example of a metabolic pathway is the process by which cells break down …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… Institute on Aging. Dr. Harris studies genes and molecular pathways that contribute to healthy adult stem cells, cells … a postdoctoral fellow in NHGRI's Medical Genomics and Metabolic Genetics Branch. Dr. Parker had attended East … Molecular Genetics Section of NHGRI's Medical Genomics and Metabolic Genetics Branch. "It was a perfect fit," said Dr. …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics … Synergies … Related Content … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics …
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 …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics … in the United States and around the world. … Overview … Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch … The Metabolic, Cardiovascular and Inflammatory Disease Genomics …
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 …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic disorders. The clinical research studies are … enzymopathies belong to the organic acidemia category of metabolic disease, and represent a group of collectively … complex and prevalent disorders, and perhaps, suggest new pathways to target for therapeutic interventions in these …
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 …