Why did you start studying Wolfram syndrome? Do you believe that a cure for Wolfram syndrome could lead to a cure for diabetes?
I believe that a cure for Wolfram syndrome could lead to a cure for diabetes. That's the reason I started working on Wolfram syndrome 12 years ago although many people thought I was crazy. I was finishing my fellowship under the supervision of a prominent physician and scientist, Dr. David Ron, MD. He was from a Jewish family, trained at Harvard, and incredibly smart and practical. He was also a very good teacher. I learned a lot from him and I was getting multiple fabulous offers as a promising academic doctor. However, I came up with an idea that Wolfram syndrome is an accelerated form of diabetes and really wanted to prove it as a scientist. I learned more about Wolfram syndrome and wanted to help Wolfram patients as a doctor. So I looked for an institution which allowed me to study an orphan disease, Wolfram syndrome. This was not so easy because most of them were interested in common diseases such as cancer and type 1 diabetes.
In 2012, I got an offer from a new research institute at the University of Massachusetts Medical School, which I did not know very well, but I decided to accept it. In retrospect, I made a right decision. I met with wonderful colleagues there, Kathryn Lipson, Karen Sargent, Sonya Fonseca, Jenny Allen, and Dr. Mariko Fukuma, PhD. I also met my mentor, Dr. Aldo Rossini, MD. In 2013, my team made an important discovery indicating that Wolfram syndrome is an accelerated form of diabetes, and is caused by endoplasmic reticulum dysfunction. Around the same time, I met with Dr. Alan Permutt, MD, who was Professor at Washington University and a pioneer of Wolfram syndrome research. My meeting with Dr. Permutt in Saint Louis in 2013 really changed my career and led to the discovery of the mechanisms of Wolfram syndrome. I will talk about this more tomorrow.