Wolfram Syndrome is a autosomal recessive genetic disorder; two copies of the gene are passed down to the child by the mother and father. Wolfram Syndrome is considered a rare disease and afflicts about 1 in 500,000. There are around 30,000 patients in the world who have this disease. In early childhood, kids with Wolfram Syndrome first develop insulin dependant diabetes. Unlike common types of diabetes, these children go on to develop blindness, deafness and other neurologic disturbances. Wolfram Syndrome can also lead to loss of sense of smell, problems with balance and coordination, muscle spasms and seizures, urinary tract problems, and irregular breathing.
The Snow Foundation plays a central role in supporting international collaborartive research efforts around the world and works with the top researcher/scientist Dr. Fumihiko Urano in St. Louis Missouri. There are currently no drug therapies or cures that exist for Wolfram Syndrome. As a result, more than 60% of Wolfram patients die before age 30. It is crucial that we gain a complete understanding of the complexities of Wolfram Syndrome by performing rigorous research, which will serve as the platform to discover and clinically test successful treatment options. Researchers believe that finding a treatment and cure for Wolfram Syndrome may open doors for treating diabetes and other rare genetic diseases such as Parkinson’s and Alzheimer’s.