By Studying His Own Disease, Grad Student Hopes to Help Others

CUMC NEWSROOM
December 2, 2016

Wolfgang Pernice is hunting for the gene that caused his neuromuscular disorder and hoping it will help lead to better treatments for others with Charcot Marie Tooth Disease.

 

To get closer to patient-centered research, Dr. Pernice joined Columbia’s Med-into-Grad program, an initiative funded by the Howard Hughes Medical Institute that pairs basic science grad students with practicing clinicians. Dr. Pernice selected Michio Hirano, MD, professor of neurology at Columbia and chief of the Division of Neuromuscular Medicine—and Dr. Pernice’s physician—to be his mentor. According to Dr. Hirano, 5 percent of the division’s patients have CMT.

Soon, the grad student shared his desire to unmask the hidden CMT gene mutation. “I fully appreciated his aspirations, as many of my patients are highly motivated to find the cause and treatments for their diseases. Of course, what distinguished Wolfgang from my patients was that he was the first with the scientific skills to actually study his disease,” says Dr. Hirano. [read more]