The first multidisciplinary clinic in the world for patients with Wolfram syndrome took place in August at Washington University Medical Center. M. Alan Permutt, MD, professor of medicine and of cell biology and physiology, has studied the syndrome in the lab for two decades, but because it is so rare, the clinic participants were the first patients with Wolfram syndrome he had ever seen.
Permutt and his staff brought 10 patients, ranging in age from 7-23, and their families to Washington University Medical Center for two days of intensive testing. Nearly a dozen School of Medicine faculty tested blood, vision, balance and hearing, performed MRI scans, neurological and psychological testing and provided genetic counseling. The clinic followed more than a year of organization and communication with families through an online registry.
The featured news item was originally published at Washington University’s Newsroom: Years of research brought together in one weekend
Photo: By Robert Boston