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Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… (germline) cancer, somatic cancer and inborn errors of metabolism have been brought together to assist in these … with expertise in cardiovascular disease, inborn errors of metabolism, somatic cancer, neuromuscular disorders, … of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Hum Mutation . …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases . PLoS Genet . 2011 …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances … of looking at levels, we decided to measure metabolism itself. One form of MMA is caused by mutations in … in the MMUT protein, which plays a pivotal part in metabolism. The protein is involved in the biological steps …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… immune response to viral infections in children with mitochondrial disorders Collection of articles reports …
File
… Vice President, BioReference Laboratories 9.15 - 10.15 am Mitochondrial Disorders Ms. Lynn e Wolfe , CRNP, NHGRI 10.15 …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… with the National Human Genome Research Institute Title: Mitochondrial DNA mutation A1555G and aminoglycoside-induced …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… glutaric aciduria type I) known as "inborn errors of metabolism" (IEM). Patients with IEM have an inherited … of a required protein (or proteins) needed to keep their metabolism churning properly. This absence can lead to a …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.