Dr. Urano Update June 2018
“I believe that Wolfram syndrome is an underdiagnosed disease. Wolfram syndrome is characterized by juvenile-onset diabetes, optic nerve atrophy, diabetes insipidus, deafness, neurogenic bladder, and symptoms related to brain cell dysfunction. However, I have discovered that Wolfram syndrome gene (WFS1) mutations result in manifestations that range from mild to severe. I know diabetes patients who carry WFS1 gene mutations and have not developed any other cardinal symptoms of Wolfram syndrome, such as optic nerve atrophy. This is called the spectrum of disease. To provide an accurate diagnosis, I have been developing “genetic testing” for screening Wolfram syndrome and Wolfram-related diseases. Using a single tube of blood, I would like to provide an accurate diagnosis. An accurate diagnosis serves as a basis for targeted therapy. An accurate diagnosis provides a sense of relief”.
As always, please feel free to contact me with any questions or concerns.
– Fumi Urano (urano@wustl.edu)