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William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… to decipher genome function and to dissect gene regulatory pathways in development and disease. His primary areas of … human patients, Dr. Pavan works to identify developmental pathways that regulate development, discover the alterations in these pathways that lead to disease and develop paradigms for …
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.
… kidney transplants, which help restore normal levels of metabolic proteins. “Vast fluctuations in metabolic substances in the bodies of patients make it … and senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. “Instead of looking at levels, we …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… Related Resources Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions … [cell.com] Peter McGuire, M.D. Medical Genomics and Metabolic Genetics Branch 2016 News Feature: Training docs to …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… researchers found that certain microbes (and their encoded metabolic pathways) are gained or lost with these disease conditions. …
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.
… miRNAs in peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services … protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital … inborn error of lipid metabolism due to DGAT1 mutations. (Metabolic Disorders) *2271T. Oleg Schelochkov: A Zebrafish …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… embryos, rapid embryo development, and conserved pathways for the majority of biological processes. … processes such as DNA repair, hematopoiesis, immunity, metabolic diseases, regeneration and specific phenotypes …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… edge," said Dr. McGuire referring to a phenomenon known as metabolic decompensation - a biochemical instability that is … Infections, like the flu, are the most common cause of metabolic decompensation in patients with IEM. After medical … Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, who leads the program, explained …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… patients and made progress in understanding the biological pathways and proteins that are important for the regulation … of the immune system's responses." Cells use biological pathways to send and receive chemical cues in reaction to …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… lies in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our … human and mouse systems to identify and better understand pathways involved in human genetic diseases and normal …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… axon growth and guidance? A proposal relating signaling pathways to growth cone mechanics. Differentiation , 70: … C. and Giniger, E. Molecular separation of two signaling pathways for the receptor, Notch." Dev. Biol , 313:556-567. …