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NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver … browser does not support the video tag. Breath test for methylmalonic acidemia measures disease severity and success …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… All times are in ET. Thursday, June 24 Scientific Session: Methylmalonic and Propionic Acidemias Time Topic Speaker … NHGRI 10:05 - 10:30 a.m. Genomic Therapies for Methylmalonic and Propionic Acidemia Charles P. Venditti, M.D., Ph.D. 10:30 - 11:00 a.m. …
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.
… group conducts both clinical and laboratory research on methylmalonic acidemia (MMA), propionic acidemia (PA), and related metabolic disorders. Dr. Venditti …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… interested in a rare metabolic disorder called propionic acidemia, which affects one in 20,000 to 500,000 people worldwide. Patients with propionic acidemia have higher levels of a chemical called propionic … have discussed the possibility of two types of propionic acidemia — mild and severe — which could have an impact on …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.