Professor, Dominick P. Purpura Department of Neuroscience
Professor, Department of Pathology
Professor, The Saul R. Korey Department of Neurology
Director, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center
A Message from the Director
Most intellectual and developmental disabilities, particularly those with genetic causes, not only predominantly affect children but are also rare—as defined by the Rare Disease Act of 2002, they affect about 1 in 1,500 people. There are estimated to be almost 7,000 rare diseases, most of which are in fact ultra-rare, affecting only a few dozen, or at most a few hundred, patients. So why study rare diseases when so many common diseases are still not understood? One reason is that it is compelling science—such diseases are in essence “experiments in nature,” and understanding how a single defective protein leads to disease often provides enormous insight into how normal cells work. For example, people with fragile X, Tay-Sachs, Rett and Williams syndromes all exhibit intellectual disability. Understanding the molecular and cellular causes of this disability could hold a key to understanding learning and memory mechanisms in typically developing children. Unfortunately, most rare diseases lack corrective therapies, with as few as 400 having any ameliorative therapies at all. Yet delving into their pathophysiology can reveal potential paths to therapy, and such findings may be transferable to diseases that are more common. Today, with more rare diseases being identified, opportunities are ripe for researchers and clinicians to refocus their energy on the little-studied, rarer forms of disease. The benefits to scientific understanding, and to those affected, have never been more evident or more promising.