Search Results
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… C. Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the … screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and … viral capsids in patients with mut methylmalonic acidemia. Hum Gene Ther, 27:345-353. 2016. [ PubMed ] Larsen, …
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 …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… the gynecologic phenotype in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz …
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 Exhibition 42 … FGF21 Underlies a Hormetic Response to Metabolic Stress in Methylmalonic Acidemia Bonham - A CRISPR Focus on Attitudes …
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: …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Research Institute Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Jennifer Sloan, Ph.D., …
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.
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 Sirtuin” Awotoye …