Kathy Swoboda, MD

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

MassGeneral Hospital for Children
55 Fruit Street

Boston, MA 02114


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.

Selected Bibliography:

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT.
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.
Ann Clin Transl Neurol. 2016;3(2):132-45. PubMed abstract / Full Text

Swoboda KJ.
Romancing the spliceosome to fight spinal muscular atrophy.
N Engl J Med. 2014;371(18):1752-4. PubMed abstract / Full Text

Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ.
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Neurology. 2014;82(15):1322-30. PubMed abstract / Full Text

Swoboda KJ.
Seize the day: Newborn screening for SMA.
Am J Med Genet A. 2010;152A(7):1605-7. PubMed abstract

Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D'Anjou G, Krosschell KJ, Reyna SP, Schroth MK, Scott CB, Simard LR.
Perspectives on clinical trials in spinal muscular atrophy.
J Child Neurol. 2007;22(8):957-66. PubMed abstract