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News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… previously thought that this disorder was caused by the immune system attacking the skin,” said Sarah Blackstone, a … this is an oversimplification, and that both skin and the immune system play an active role in disabling pansclerotic …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… gallstones or other diseases of the liver and biliary system. Both men and women can have Crohn's disease. It can … or steroids (corticosteroids) such as prednisone. Immune system suprressors, such as 6-mercaptopurine or a … this is increasingly rare in Crohn's, especially with new immune therapies. … There appears to be a risk for inheriting …
Research Funding
The three research domains to be considered for support by the NHGRI Ethical, Legal and Social Implications Research Program.
… Contact: Rene Sterling … Genomics at the Institutional and System Level Institution and System-based Influences on Genomic Equity System-Level Understanding and Use of Genomics Healthcare …
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 …
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 …
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
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 …