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Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… to understand the pathophysiology of metabolic stress in methylmalonic acidemia (MMA). She studied the effects of dietary … a pharmacodynamic measure in upcoming clinical trials on methylmalonic and propionic acidemias. She is the lead … disease progression and therapeutic response in isolated methylmalonic acidemia (MMA) . J Inherit Metab Dis . 2023 …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Amino Acid Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Asthma New Approaches for Empowering Studies of … Errors of Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Inborn Errors of Metabolism Diagnosis …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… aciduria, argininemia Organic acidemias Propionic acidemia, methylmalonic aciduria, isovaleric acidemia, glutaric acidemia, maple syrup urine disease Fatty …
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 …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… genetics education Oleg Shchelochkov, M.D. Propionic acidemia Ellen Sidransky, M.D. Gaucher disease, Lysosomal … diseases program Charles Venditti, M.D., Ph.D. Hereditary methylmalonic acidemias and disorders of intracellular …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… due to Deficiency of CD-73 (ACDC), and for a new form of methylmalonic acidemia. However, NHGRI's clinical research endeavors extend …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… reduced survival, growth retardation, and combined methylmalonic academia and hyperhomocysteinemia. Session #72: … (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic Acidemia. (Molecular Basis of Mendelian Disorders) 2957W. …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) . Genet Med . 2021;23(11):2233. Dimmock D, …
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… Elevated Hormone Flags Liver Problems in Mice with Methylmalonic Acidemia Zooming in on Meiosis Accelerating Cures in the …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… with a significant impact on affected families such as methylmalonic acidemia. "Dr. Koehly brings out the best in individual …