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A cure for Wolfram syndrome could lead to a cure for diabetes and blindness.

Sunday, June 17, 2012

Combating Wolfram syndrome

I am a physician scientist who is studying diseases in children. My major focus is to find a treatment for Wolfram syndrome characterized by juvenile-onset diabetes, optic atrophy, and neurodegeneration.

The first milestone for this task was to create an international registry of patients with Wolfram syndrome. The driving force was a mother who had a son with this disorder. She emailed me, Dr. Barrett in England, Dr. Tanizawa in Japan, and my long-term collaborator, Dr. Permutt. She asked us if she could do anything to help her son and other patients. She raised money and hosted a small workshop in Paris, France. 

The workshop was a big success. We exchanged our vision there and made a road map. The registry started in October, 2009. It was a wonderful accomplishment. I felt gratified and thanked all the people who helped us. We then moved to the next level.