Investigating causes, and developing treatments and therapies to help improve the lives of individuals living with WAGR/11p deletion syndrome is central to the mission of the International WAGR Syndrome Association. No two individuals with WAGR Syndrome will present identical symptoms or problems, but many share similar medical conditions and challenges. In the recent past, the IWSA has helped to identify and support research opportunities and continues to work with physicians, medical facilities and organizations to develop future studies and encourage participation.
Research related to WAGR Syndrome supported by the IWSA began in 1999 when two WAGR parents, Kelly Trout and Catherine Luis, conducted a survey called “Medquest.” In 2005, the results of this survey were incorporated into an article in the journal, Pediatrics, entitled “WAGR syndrome: A clinical review of 54 cases.” As a result of this effort and publication, several years of formal research began in 2006 at the Eunice Kennedy Shriver Institute of Child Health and Human Development at the National Institutes of Health in Bethesda, Maryland. Led by Dr Joan Han, the “International WAGR/11p Deletion Syndrome Research Study” was designed to learn more about how the genes involved with WAGR/11p deletion syndrome affect people with this condition and to identify potential treatments to improve their lives. More than 65 individuals participated in the long-distance phase and more than 40 participated in the onsite studies conducted at the NIH.
The recent development and launch of the CoRDS/IWSA Patient Registry is the culmination of several years of dedication and work led by the IWSA’s Health Consultant and WAGR parent, Kelly Trout. In 2012, the IWSA was one of thirty rare disease organizations chosen to participate in a pilot project by the Office of Rare Disease Research at the NIH. Called the Global Rare Diseases Patient Registry and Data Repository (GRDR), it was designed to demonstrate how online registries of patient data can facilitate research, and accelerate the development of treatment for rare diseases. The CoRDS/IWSA Patient Registry was designed as a result and is intended to provide information on symptoms, diagnoses, and medical history in a secure online site.