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News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… disease that mimics the same condition in patients with methylmalonic acidemia (MMA), a serious genomic disorder. Based on this … FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia "We found that having MMA, whether in …
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
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene therapy for an inherited disease in children called methylmalonic acidemia, or MMA. For 10 years, NHGRI researchers have worked … help us move forward to develop safer gene therapy for methylmalonic acidemia," said Randy Chandler, Ph.D., lead …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… that medical foods, including those given to patients with methylmalonic acidemia (MMA), are not subject to the same scrutiny as … food into energy. In the first of these, known as isolated methylmalonic acidemia (MMA), mutations in any one of four …
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 …
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 …
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 …
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: …