Fumi Urano, M.D., Ph.D. and Stephanie Snow Grebel speak with ABC news on the Allman Report about the challenges of funding and finding the cure for Wolfram syndrome. Stephanie’s daughter, Raquel lives with Wolfram syndrome. Also, Dr. Francis Collins of the National Institutes of Health comments on the difficulties of funding rare diseases.
Rare Disease Day is Saturday, February 28th
Rare Disease Week on Capitol Hill is from February 23-27.
Dr. Urano’s research is focused on developing personalized medicine for Wolfram syndrome characterized by juvenile diabetes, optic nerve atrophy, and neurodegeneration. Urano’s team has been establishing gene-based diagnostics for Wolfram syndrome and other forms of diabetes, as well as developing novel therapeutics using induced-pluripotent stem cells (iPS cells) derived from patients’ skin cells. His team is also developing a method for the regeneration of insulin-producing cells using a trophic factor. Urano’s team has established the Wolfram syndrome patient registry to identify disease-progression biomarkers and drug targets for designing therapeutic trials.
In the fall of 2010, Raquel Gebel, the eight-year-old daughter of Stephanie Snow Gebel, was diagnosed with Wolfram syndrome, a rare form of diabetes that affects many of the body’s organs and in 60% of cases causes death before age 30. Stephanie and her brother J.T. Snow, former San Francisco Giants first baseman and six-time Gold Glove winner, started The Snowman Fund to raise money and awareness of Wolfram syndrome research. The Snowman Fund has evolved into The Jack and J.T. Snow Scientific Research Foundation, named also in honor of their late father, Jack Snow, “Voice of the St. Louis Rams,” 11- year veteran of The Los Angeles Rams, and Notre Dame All-American.
The Snow Foundation plays a central role in supporting research being conducted at Washington University School of Medicine and supporting international collaborative research efforts in France, Denmark, Spain, Great Britain and Estonia. The Foundation also provides support for the patients and families that are dealing with Wolfram syndrome.