Dr. Alan Permutt, who died Monday at age 72, was a physician-scientist at Washington University whose dogged pursuit to find the cause of diabetes helped lead to major advances in the fight against the disease.
He was one of the world's leading diabetes researchers and discovered the genetic cause of a deadly form of diabetes called Wolfram syndrome.
Scientists hope that medications used to treat this rare form of diabetes eventually may help control the more common forms of the disease.
About 25 million children and adults in the U.S. — more than 8 percent of the population — are estimated to have type 1 diabetes or type 2 diabetes.
Dr. Permutt had an advantage shared by few other diabetes researchers: He was highly motivated because he had the disease he was trying to cure.
Dr. Marshall Alan Permutt died June 11, 2012, at his home in Clayton. He was diagnosed in 2007 with kidney cancer that later spread to his lungs, his family said Tuesday.
He had been insulin-dependent for more than 56 years.
He was 16 when he left his hometown of Birmingham, Ala., to spend the summer as a camp counselor in Sparta, Tenn. Although his family physician had signed a form attesting to his good health, a camp nurse performed a blood test that found he had high glucose levels. The diagnosis was juvenile diabetes.
Camp officials sent him home on a bus and his parents took him to a hospital for treatment.
According to family history, he quickly learned to give himself insulin shots and took a bus back to camp, where he spent the rest of the summer.
It wasn't his first brush with an illness. At age 8, he developed a severe case of asthma and his parents sent him to live in Arizona for five years.
Whatever the obstacle, "he just kept right on going," said a sister, Patti Wainger of Norfolk, Va.
Dr. Permutt helped control his diabetes with exercise. He became an avid runner but his disease led to fractures in his lower legs.
He consulted a physician who had helped lepers in India strengthen their leg bones through bicycling. Dr. Permutt immediately took up the sport. In 2009, a cycling organization honored him for his "indomitable spirit."
Dr. Permutt graduated from Johns Hopkins University in Baltimore and Washington University School of Medicine. He joined the Washington University faculty in 1970.
In 1992, he discovered the gene that could cause type 2 diabetes. It was the culmination of years of studies by diabetes investigators.
He turned his attention to Wolfram syndrome. About 60 percent of those patients die before age 30.
In 1998, Dr. Permutt discovered the genetic cause of the syndrome. People with the disease now come to St. Louis for evaluation, although there is still no cure for the disease.
"He really started something amazing," said Dr. Clay Semenkovich, chief of endocrinology at Washington University. "There is every reason to believe that these medications that work for Wolfram's syndrome will also work for other forms of diabetes."
Stephanie Snow Gebel of Glencoe is the mother of a 7-year-old girl, Raquel, who was diagnosed with Wolfram's syndrome in 2010. Her family started the Snowman Fund to help fight the disease.
Raquel's grandfather was the late Jack Snow, a former player and announcer for the Rams. Raquel was Dr. Permutt's patient for about a year and a half.
"His passion, dedication and love for these Wolfram syndrome patients made me more passionate and very driven to get him the money he needed to carry on his dream and my dream of saving my own child," Gebel said.
Dr. Richard Kahn, former chief scientific and medical officer for the American Diabetes Association, said Dr. Permutt was unique because he knew firsthand the toll diabetes took on patients.
"It really pushed him," Kahn said. "And the nature of his work was exceptional."
A memorial service will be held at 2 p.m. today at Central Reform Congregation, 5020 Waterman Boulevard, with visitation at 1:30 p.m. The body will be cremated.
Survivors, in addition to his sister, include two daughters, Joelle Mumford of Chapel Hill, N.C., and Robin Winer of Chicago; a stepbrother, Maury Shevin of Birmingham; a stepsister, Jann Shevin of Las Vegas; four grandchildren; and his longtime friend, Rhea Oeleaum of Clayton. Dr. Permutt was divorced.