Search Results
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
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 …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… typical of an autoinflammatory disease, where the immune system appears to be activated without any apparent trigger. … tocilizumab did. Tocilizumab, a drug that suppresses the immune system, reduced the severity and frequency of CRIA …
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 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 …
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 …
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 …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… provides comprehensive treatment for inherited blood and immune diseases Genome: Unlocking Life's Code September 2019 …
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 …