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Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… will be entered into an electronic data management system (PocketLIMS) optimized for data collection in both …
News Release
NIH released a Request for Information seeking comments on the data submission and access process for dbGaP.
… of Health (NIH) Genomic Data Sharing Policy establishes a system to promote data sharing, while also protecting … tools, and data management models be developed to make the system as user-friendly and efficient as possible, as well as …
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… employee health programs Jeff Thompson (Gundersen Health System) 11:40 a.m. - 12:00 p.m. Discussion Moderator: Laura … genetic testing Jane Gilbert (Teachers' Retirement System of Kentucky) Gary Harbin (Teachers' Retirement System of Kentucky) 12:55 - 1:15 p.m. Discussion Moderator: …
News Release
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
… or gastric adenocarcinomas. … A More Useful Classification System Instead of considering gastric cancer as a single … genes for two proteins, PD-L1 and PD-L2, which suppress immune responses; their increased expression may help tumors escape destruction by the immune system. The investigators suggested that these …
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 …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… while also advancing our understanding of the human immune system. However, a large subset of patients have clinical …
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 …