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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 …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… the best,     … Rare and common genetic determinants of metabolic individuality and their effects on human health … innate and foreign substances. In some cases, these metabolic changes can impact physical traits such as risk of …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… involve strengthening the connectivity of particular pathways in the brain. The researchers propose that either …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… and their regulatory elements, cell types, and biological pathways. The IGVF Consortium is being designed to advance … on Genomics and Global Health, as well as Chief of the Metabolic, Cardiovascular, and Inflammatory Disease Genomics … the genomic, social, and cultural determinants of metabolic diseases with implications for health disparities. …
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 …
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 …
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… and are usually only available through controlled-access pathways. The privacy risks for individual-level data are … would be shared through open access (unrestricted) pathways. This means that controlled-access NIH-designated …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… M.D., Ph.D. , as chief of the recently established Metabolic Medicine Branch within the Institute’s Intramural … Program. Dr. Venditti was selected for his expertise in metabolic diseases as well as his leadership and mentorship … became a senior investigator in the Medical Genomics and Metabolic Genomics Branch. Dr. Venditti will begin his …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… broad experiences in clinical and molecular genetics, metabolic diseases, and bioinformatic applications. The … in several respects. It exposes residents to rare metabolic disorders that might not be seen in a more typical … spectrometry to enable diagnosis of a wide range of inborn metabolic disorders. Fellows in this laboratory program …