Endowed Chair in Neurogenetics
Director, Neurogenetics Program
Co-Director, MGH Neurogenetics Diagnostic Laboratory

MassGeneral Hospital for Children
55 Fruit Street

Boston, MA 02114
http://www.massgeneral.org/children/doctors/doctor.aspx?id=19696#

Biosketch:

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, DHPR and 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 neurologic disorders. She has received funding from the National Institutes of Child Health and Development, the National Institutes of Neurologic Disease and Stroke, Families of SMA, Fight SMA, the Muscular Dystrophy Association, the SMA Foundation, the Pediatric Neurotransmitter Disorder Foundation, and the Alternating Hemiplegia of Childhood Foundation.

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