Researchers at the School of Medicine have identified an unusual cause of the lysosomal storage disorder called mucolipidosis III, at least in a subset of patients. Unlike most genetic diseases that involve dysfunctional or missing proteins, the culprit is a normal protein that ends up in the wrong place.
Researchers at Washington University School of Medicine in St. Louis, including Stuart A. Kornfeld, MD, have obtained new evidence that at least some persistent stuttering is caused by mutations in a gene governing not speech, but a metabolic pathway involved in recycling old cell parts. Beyond a simple association, the study provides the first evidence that mutations affecting cellular recycling centers called lysosomes actually play a role in causing some people to stutter.
When Kerry Kornfeld, MD, PhD, says his life began at the School of Medicine, he means that literally.
Stuart A. Kornfeld, MD, the David C. and Betty Farrell Professor of Medicine, has received one of the highest awards in academic medicine, the 2010 George M. Kober Medal, from the Association of American Physicians. Kornfeld was presented the award on April 23 during the association’s annual meeting in Chicago.