Dr. Cynthia Tifft, NHGRI Deputy Clinical Director and Director of the Pediatric Undiagnosed Diseases Program at the National Institutes of Health, has received the National Organization for Rare Diseases (NORD) 2017 Rare Impact Award. Dr. Tifft has dedicated decades of work to researching rare diseases and advocating for rare disease patients.
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch (SBRB), which conducts research that will potentially transform healthcare through the integration of genomic medicine into the clinic. Her overarching goal for the branch is to build bridges across disciplines, including fields within the social and behavioral sciences and the biological and genomic sciences. SBRB research also includes a focus on disorders that have a major public health impact.
NHGRI researchers and their collaborators have identified mutations in the TAF1 gene in clear cell endometrial cancer (CCEC) tumors, shedding light on the underlying genomic changes that are likely to be important in driving development of this a rare but clinically aggressive form of endometrial cancer. The study was published May 9, 2017, in the journal Cancer.
Attention-deficit/hyperactivity disorder (ADHD) is highly heritable, but researchers don't know much about the genes that cause it. Read about the experience of a participant in a National Institutes of Health (NIH) clinical trial who is helping researchers find the contributing genes. After researchers at the National Human Genome Research Institute identify the genes, they can begin to look for new medications, new behavioral interventions or new combinations of both.