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NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… non-coding variants and genetic architecture influences immune cell function.  Jill Moore, University of … effects on cis-regulatory element activity in primary immune cells. They will assess putative causality through … develop computational methods to minimize the impact of system biases and off-target effects in single-cell CRISPR …
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.
… editing approaches to treat metabolic disorders, study immune manifestations caused by mitochondrial dysfunction and …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… a group of disorders mediated by cells of the innate immune system. Dr. Aksentijevich subsequently discovered the genetic … in enzymes involved in the control of ubiquitination in immune cells. This includes the identification of dominant …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… understand the DNA drivers of common human diseases (using immune diseases as test cases), the researchers plan to … analyze how DNA variants that are associated with common immune diseases cause individuals to differ in their immune … that contribute to human disease. They plan to test a system they developed called Combined Annotation Dependent …
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
… food without them living in our gut, or to have a working immune system  without regular exposure to these microbes. However, … our gut bacteria are huge helpers; they even train our own immune systems on what is "good" and what is "bad" in the …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… called the UDN Gateway. Introduction of this application system sets the stage for the network to advance its core … are unrecognized forms of more common diseases. … The new system streamlines the application process. All applications …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… stage for the domestic dog to provide a highly relevant system in which to further develop BRAF -targeted therapy … served as a model in cancer research. They were central to immune system research that led to development of bone marrow …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… production, protection against invading pathogens and immune system support. Now, the number of bacterial species living … and possibly trigger onset of disease linked to the immune system. Such stressors could particularly affect …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… Research NIH Researchers Link Graying Hair and the Immune System Essential Malaria Parasite Genes Revealed Genomic … NIH Study Finds Gut Microbiome Can Control Antitumor Immune Function in Liver One Patient's Diagnostic Odyssey …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… of the evolutionarily ancient innate branch of the human immune system. Dr. Kastner has won a number of awards and honors, … autoinflammatory disease to denote a broad group of innate immune disorders. Based on other clinical encounters, the …