M. Alan Permutt Biography
Claim to Fame: Scientist (discovered the Wolfram Syndrome gene)
DOB: November 20, 1939
Date of Death: June 10, 2012
Diabetes Type: 1
A late great of diabetes research, M. Alan Permutt, MD, devoted his life to helping his patients. Specializing in genetics, Dr. Permutt’s work studying the Wolfram Syndrome dramatically changed the future of diabetes diagnosis.
Born in Birmingham, Alabama, Dr. Permutt was diagnosed with type 1 diabetes as a teenager. Instead of discouraging him, the illness instilled in Dr. Permutt a love for learning and a lifelong drive to study how diseases like diabetes genetically impact our society. After attending John Hopkins University and receiving a medical degree from Washington University Medical School, Dr. Permutt interned at Yale-New Haven Hospital, in New Haven, Connecticut. Dr. Permutt later served as a resident at the University of Washington in Seattle, but eventually returned to Washington University to teach Medicine and Cell Biology and Physiology.
After several decades of research, Dr. Permutt made a considerable discovery in 1992 when he and his team found that variations in the glucokinase gene could cause type 1 diabetes. Focusing the next few years of his research on diabetes-carrying genes, Dr. Permutt had the breakthrough of his career in 1998 when he identified the gene for Wolfram Syndrome. Dr. Permutt determined that Wolfram Syndrome, a rare genetic disease that initiates type 1 diabetes in children, results from the mutated WFS1 gene and causes the death of pancreatic cells. Although Wolfram Syndrome is estimated to affect only one out of a million people, 60% of Wolfram patients die by age 30 due to the disease’s degenerative side effects.
For years, Dr. Permutt had struggled to find help for unknowing Wolfram patients, all of whom had aggressive symptoms such as hearing loss, vision loss, and compromised neurological function. Dr. Permutt worked to collaborate with the St. Louis Children’s Hospital to tend to those afflicted with the disease, and by 2010 they opened the first multidisciplinary testing and assessment clinic for Wolfram patients and their families. Although Dr. Permutt had already been living with bladder cancer for two years at the time, he passionately devoted himself to the study of Wolfram Syndrome until the end of his life.
Due to complications from cancer, Dr, Permutt passed away on June 10, 2012 at the age of 72. When not teaching or conducting research, Dr. Permutt served as Director of the Diabetes Research and Training Center at Washington University; worked closely with The Snowman Fund to raise funding for Wolframs research; and actively promoted physical activity as a healthy and therapeutic method of diabetes management. As a person with diabetes himself, Dr. Permutt will long be remembered in the diabetes community for his drive in advancing diabetes research, his positivity in the field, and his kindness toward his patients.
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