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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.
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2019.
… families work with NIH researchers to advance research on methylmalonic acidemia) 41 Genome: Unlocking Life's Code … FGF21 Underlies a Hormetic Response to Metabolic Stress in Methylmalonic Acidemia Bonham - A CRISPR Focus on Attitudes …
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 …
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 …
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.
… projects focused on several conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2024.
… Research Highlights Manoli et al. – "Lipodystrophy in Methylmalonic Acidemia Associated with Elevated FGF21 and …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… disorders. His expertise lies in a disorder known as methylmalonic academia (MMA), in which the body cannot break …
File
… 2021 NIH Webinar on Organic Acidemias Agenda …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… research physician studying many aspects of organic acidemias. After his early genetics training at Baylor …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2022.
… Head et al. – “Aberrant Methylmalonylation Underlies Methylmalonic Acidemia and Is Attenuated by an Engineered …