Search Results
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
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
… 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 …
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
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 …
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 …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… some cases, pharmacogenomic testing can be used to predict immune reactions to certain medications. For example, people … the cancer cells from growing and signals the patient’s immune system to kill the cancer cells. Pharmacogenomic testing of a …
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 … 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 …
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
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 …