Associate Professor, Neurology and Pediatrics Director, Pediatric Motor Disorders Research Program
United States of America
Dr. Kathy Swoboda received subspeciality training in neurology, genetics and neurophysiology at Harvard University and affiliated programs. She currently directs the Pediatric Motor Disorders Research Program at the University of Utah School of Medicine, Salt Lake City, USA, where she is an associate professor in the Departments of Neurology and Pediatrics.
The major focus of her efforts have included genotype/phenotype studies in children with movement disorders and inherited neuromuscular disorders, with a particular focus on spinal muscular atrophy (SMA). A major focus of her research efforts has been in the validation of clinical trial outcome measures for children with motor disorders, and in developing proactive care paradigms for both the hospital and outpatient clinical settings. This work includes development and application of electrophysiologic techniques to better understand the time course of disease progression, pathophysiology and genotype-phenotype correlates underlying motor dysfunction in infants with spinal muscular atrophy (SMA).
She currently directs a pilot study to assess the potential role for newborn screening for infants with SMA. She helped to establish and is the principal investigator for the Project Cure SMA Investigator’s Network, an international multi-center clinical research collaboration funded by Families of SMA to facilitate the rapid translation of new therapies for treatment trials. She receives funding from NICHD, Families of SMA, FightSMA, MDA, the SMA foundation and the Alternating Hemiplegia of Childhood Foundation.