Kathryn J Swoboda, MD

Massachusetts General Hospital, Boston, MA, USA

Kathryn J Swoboda is a neurologist and geneticist with particular expertise in motor disorders with childhood onset. Her primary research efforts include genotype/phenotype studies targeting the underlying molecular disease pathogenesis, biomarker development and treatment of inherited motor disorders. She has directed or collaborated in numerous clinical trials and studies in children and adults with spinal muscular atrophy (SMA), alternating hemiplegia of childhood (AHC), inherited disorders of neurotransmitter biosynthesis and metabolism (Segawa disease, dihydropteridine reductase [DHPR] and 6-pyruvoyl-tetrahydropterin synthase [PTPS] deficiency), and other disorders, including childhood-onset ataxias and neurodegenerative disorders. She is actively engaged in pilot initiatives to support newborn screening for neurodegenerative disorders with onset in infancy or childhood, including SMA, Pompe and other rare neurological disorders.