The Rare Brain Disorders Program at UT Southwestern includes a patient care resource and a research laboratory devoted to the understanding of infrequent, undiagnosed or underdiagnosed neurological diseases of children and adults.
A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. These disorders typically prompt each patient to seek repeat medical opinions and testing available from a small number of academic medical centers with sufficient diagnostic expertise. These programs offer multidisciplinary assessments, comprehensive DNA, imaging and analytical testing and are engaged in NIH-funded clinical studies. Emphasis is on accurate diagnosis, as there are very few treatments for these diseases.
Neurology represents an important area for rare diseases which are often multi-organ conditions with predominantly neurological manifestations. NINDS and the Office of Rare Diseases Research support the adult and pediatric Rare Brain Disorders Clinic, which diagnoses patients from virtually all regions of the U.S. and a small number of patients from abroad.
The Rare Brain Disorders Program holds a commitment to nurture promising academic physicians. About 50 medical students and graduate students, as well as residents and postdoctoral researchers, are involved in the program annually, ensuring that the clinic’s greatest accomplishments lie ahead. The laboratory is approved for a research residency track in pediatric neurology by the American Board of Psychiatry and Neurology.
The laboratory’s educational mission doesn’t end with future physicians and scientists—the patients, their families, and the public add to the collaborative effort. It takes many hands working together to carry improved care from lab to bedside. Through invited lectures and public speaking, our faculty members increase awareness of rare brain disorders, available medical services, new scientific discoveries, and opportunities to participate in clinical trials. In addition, the Rare Brain Disorders Program partners with The Child Brain Foundation every year to hold The Child Brain Conference on topics of brain disease and biology of interest to the lay public.