M. Alan Permutt, MD, professor of medicine and of cell biology and physiology at Washington University School of Medicine in St. Louis, died of bladder cancer Sunday, June 10, 2012, in St. Louis. He was 72.
A faculty member since 1970 and one of the world’s leading diabetes researchers, Permutt demonstrated in 1992 that variations in the glucokinase gene could cause type 2 diabetes. The discovery was the culmination of years of connecting complex genetic linkage studies and molecular biology to a common, chronic disease.
Later, his studies of genes and diabetes led him to focus on a particularly devastating form of the illness called Wolfram syndrome. Permutt’s laboratory identified a gene for the illness, which causes type 1 diabetes, hearing loss, severe vision loss and hearing and neurological problems. Some 60 percent of patients die before they turn 30 due to progressive neurodegeneration.
For more than a decade, Permutt’s laboratory researched Wolfram syndrome, developing and studying a mouse model of the disorder. Then in 2010 with St. Louis Children’s Hospital, Permutt led the effort to create the world’s first multidisciplinary clinic for patients with Wolfram syndrome, bringing them to St. Louis from all over the world for intensive testing. Because the syndrome is so rare, that first clinic in 2010 also represented the first time Permutt was able to work directly with patients with Wolfram syndrome and their families. Before that, his studies had focused only on their genetic material.
Permutt himself had diabetes, and his understanding of what life was like with a chronic disease helped guide him both in the laboratory and in the clinic.
“Alan Permutt was a distinguished investigator who was passionately committed to understanding the underlying causes of diabetes, particularly Wolfram syndrome, and he worked tirelessly to support children and families living with that disorder,” says Victoria J. Fraser, MD, the J. William Campbell professor and interim head of the Department of Medicine. “Alan battled cancer for several years but continued to work until very recently. I never heard him complain about his own health. He had a tremendous amount of energy, grace and courage, which served him well throughout his career. We have lost a great member of our community, and I am deeply saddened by his death.”
Original article published at Washington University Newsroom: Permutt, renowned diabetes researcher, 72