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Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), propionic acidemia (PA), and Niemann-Pick … a growth advantage for corrected hepatocytes in mice with methylmalonic acidemia . Hepatology . 2021. Schneller JL, Lee …
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. …
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 …
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, …
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 …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… focuses on the experience of a patient afflicted with methylmalonic acidemia (MMA) and how research by the Venditti laboratory is …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… Families Work with NIH Researchers to Advance Research on Methylmalonic Acidemia Upcoming Videocasts & Webinars Eighty-Fifth Meeting: …
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 Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… . April 5, 2021: NIH scientists develop breath test for methylmalonic acidemia . May 17, 2021: NHGRI director appoints Vence Bonham …