Dr. Urano's Blog

A cure for Wolfram syndrome could lead to a cure for diabetes Part 2

My first meeting with Dr. Permutt was in 2003. I gave a lecture on Wolfram at Washington University, but he could not come because of the Jewish holiday. So he came to my hotel next day. We had breakfast together and exchanged our ideas. Dr. Permutt was a renowned diabetes researcher and I was nervous. I still remember that I was sweating a lot and he asked me why, but I explained him my concept that Wolfram syndrome is endoplasmic reticulum (ER) disease. I also told him the possibility that ER dysfunction could play a role in beta cell dysfunction in major forms of diabetes, type 1 and type 2 diabetes. Interestingly, he accepted my “crazy” idea and offered help. I also met with his fellows, Dr. Andrew Riggs MD and Dr. Mitsu Ohsugi, MD. They were analyzing their mouse model of Wolfram syndrome.

Dr. Permutt and I started working together in 2003 and we started receiving samples from patients with Wolfram syndrome. From 2005 to 2006, my team could publish multiple papers showing that Wolfram is ER disease. We also started publishing that ER dysfunction plays a role in beta cell death in major forms of diabetes. The concept was controversial, but some researchers and doctors started showing interest in our idea. We kept on working on the role of ER dysfunction in beta cell death to prove our theory.

In 2010, Dr. Permutt and I could publish another paper showing that Wolfram is ER disease. Around this time, many researchers and doctors became interested in my theory. In 2011, I gave more than 30 lectures around the world on this topic, received a tenure from the University of Massachusetts Medical School, and was elected to the American Society For Clinical Investigation because of my contribution to the Wolfram syndrome and diabetes research, one of the highest honors as a young physician. However, I was feeling that I was at dead end and seriously thinking about leaving research and academic medicine because of several reasons. However, two incidents brought me back to research.