Research is one of the four pillars of TSF’s mission. TSF recognizes that research is a team effort and, as a result, supports initiatives by referring families to participate in studies across the U.S. Scientists and physicians must have a comprehensive understanding of Turner Syndrome in order to lower diagnosis age and improve treatment options.
TSF partners with universities and medical centers to increase participation of research studies and develop new opportunities for TS research. These partners include Stanford Center for Interdisciplinary Brain Science Research, Nemours Children’s Hospital, the National Institutes of Health, University of Chapel Hill, Rush University, Arcadia University, Coriell Laboratories/NGIMS biobank, JS Genetics Laboratories, and more.
TSF’s Research Initatives
Outside of these collaborations, TSF has also commissioned its own research initiatives. The first, the TSF Patient and Caregiver Registry, launched in 2009 to collect data on many aspects of TS, such as access to care, areas of concern, and more. In 2018, that registry expanded to include the Turner Syndrome Research eXchange (TSRX). TSRX is a collaboration with Invitae that collects de-identified patient information to help the global research community learn more about TS. TSRX participants can also see how their responses compare with others’, providing an immediate benefit to those affected by TS.
In addition, TSF has assembled committees of experienced medical professionals to address complex issues. These include the Council on Infertility (COI), which published guidelines on infertility and family planning, and the Transition Task Force in collaboration with the Hormone Health Network focused on a smooth transition from pediatric to adult care. Currently, the Council on Cardiology (COC) is working to improve cardiac care in TS patients.