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Educational Resources
Mitochondrial DNA is the small circular chromosome found inside mitochondria.
… are the site of the cell’s energy production and other metabolic functions. Offspring inherit mitochondria — and as …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… genes are turned on and off. mir4485 controls cellular pathways that help cells survive. For children with …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… She has conducted research on genetic epidemiology of metabolic disorders especially obesity and obesity-related … strategies to study the complex molecular basis of metabolic disorders including adipokine profiling, whole … at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016 Jan …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, … for the conduct of primary research into the etiology of metabolic disorders and to provide scientists access to these …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… Biesecker, M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch and the study's corresponding …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… uncovering new behavioral, neurological and developmental pathways and genes that are shared or related among species. … of dogs with sleep problems have revealed genes and pathways - and potential drug targets - to treat sleep …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… obesity, said Charles N. Rotimi, Ph.D., chief of NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … Americans, we are providing new insights into biological pathways for obesity that have not been previously explored," … College of Medicine, University of Lagos, Endocrine and Metabolic Unit, Lagos, Nigeria -- Olufemi Fasanmade, Thomas …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… DR. Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… the rate of progression of HD or correct or replace other metabolic defects contributing to the development and … discovered how the genetic mutation alters chemical pathways to cause the disease. By identifying these changes, …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… The researchers found that type 2 diabetes disrupts metabolic processes consistently across populations. Additionally, the study highlighted a new metabolic signature that could help in determining a person’s …