ICTS Supports Rare Disease Research and Awareness

Stephanie Snow Gebel shares her experiences engaging and motivating the research enterprise around Wolfram syndrome.
Emily Bejerano, 15, traveled to the annual Wolfram Clinic again in 2019. Diagnosed at age seven, Bejerano struggles with vision problems and insulin-dependent diabetes, common symptoms of Wolfram syndrome.

Rare diseases by definition afflict a limited amount of people. However, according to the National Center for Advancing Translational Sciences (NCATS), the collective impact of rare diseases affect an estimated 30 million people in the United States. As part of the CTSA program, the ICTS is working to engage patients and communities around rare disease.

One way the ICTS aids rare disease research is through the Pediatric Clinical Research Unit (PCRU), a facility that provides space and support for clinical research projects conducted with children at Washington University in St. Louis. In this role, the PCRU has made a huge impact on one rare disease in particular, Wolfram syndrome. This rare genetic disease affects one in 500,000 people worldwide and causes neurologic problems, insulin-dependent diabetes and other serious conditions. Annually, the PCRU hosts an international, multidisciplinary clinic for patients with Wolfram syndrome that assists researchers in understanding how symptoms progress. For several days this past July, the Washington University Wolfram Syndrome Research Clinic, operating out of the PCRU, saw 37 patients during their ninth annual clinic.

Beyond clinical support, the ICTS is working to build community awareness of rare diseases like Wofram syndrome. In August, the ICTS Precision Medicine function sponsored a community event with The Academy of Science – St. Louis, on how families can motivate and engage the research enterprise around rare disease. Stephanie Snow Gebel, founder of the Snow Foundation and mother of a child with Wolfram syndrome, spoke about her experience leading the foundation and raising money to help find a cure.

Bess Marshall, MD and Tamara Hershey, PhD prepare to see patients during the 2019 Wolfram syndrome research clinic.
Pictured left to right: Fumihiko Urano, MD, PhD; Stephanie Snow Gebel, Founder of the Snow Foundation, and Tamara Hershey, PhD gather for a photo after the community event, “Moving Mountains: Parents and Families Drive Research in Rare Disease”.
Washington University ICTS researchers, Drs. Hershey and Urano have collaborated closely with the Snow Foundation and helped facilitate discussion at the event.