Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN, is the severest of adverse drug reactions that affects the skin. NHGRI's Division of Genomic Medicine supports research to develop approaches for the use of genome sequencing and other tools to improve diagnosis, treatment and prevention of diseases, such as SJS/TEN, that might have saved a young woman's life.
NHGRI's ENCODE Project has spent 13 years building a catalog of all the functional elements in the human genome sequence, and making it available to scientists worldwide for the study of human health and disease. On February 9, 2017, ENCODE program directors in the Division of Genome Sciences at NHGRI, and ENCODE researchers from the University of California, San Francisco turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit community.
Jeffery Schloss, Ph.D., director of the Division of Genome Sciences at NHGRI, has retired after a successful career leading NHGRI's DNA Sequencing Technology Development Program and launching the Centers of Excellence in Genomics Sciences (CEGS) program. Known for his intellect, leadership and dedication, Dr. Schloss shares the story of his career path and the significant contributions he and his have team made while at NHGRI.
The National Institutes of Health plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, a fundamental genomics resource used by many scientists to study human health and disease. Funded NHGRI, a part of the NIH, the ENCODE Project strives to catalog all genes and regulatory elements - the parts of the genome that control whether genes are active or not - in humans and select model organisms. Four years of additional support will build on a long-standing commitment to developing freely available genomics resources for use by the scientific community.
Since 2015, the Undiagnosed Diseases Network (UDN) has been working toward creating a model system for diagnosing medical mysteries. The network's goals? Accelerate the diagnosis of rare or previously unrecognized diseases; improve clinical management of these disorders; and advance research. UDN members have now published a how-to guide for diagnosing medical mysteries for medical centers nationwide. Read about it in the American Journal of Human Genetics.