Kathryn Swoboda
Physician · Mass General Brigham
Credentials: · · ·
History
- Present
- 1994–1998
Neurodevelopmental Disabilities
- 1990–1994
Neurology
- 1986–1990
Doctor of Medicine
Research
Escaping the nuclear confines: signal-dependent pre-mRNA splicing in anucleate platelets
Cell · 2005 · 523 citations
American Journal of Medical Genetics Part A · 2015 · 515 citations
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy
Neurology · 2016 · 498 citations

19 papers

17 papers

16 papers
- JK
15 papers

14 papers

10 papers

10 papers
- MB
8 papers
Grants
- 2018–2020
Neural and Non-Neural Contributions to Phenotype in Human SMA Type 1
National Institute of Neurological Disorders and Stroke · R21
Contact PI · $463.4K · Massachusetts General Hospital
- 2011–2018
The Utah Regional Network for Excellence in Neuroscience Clinical Trials
National Institute of Neurological Disorders and Stroke · U10
PI · $895.8K · Utah State Higher Education System--University of Utah
- 2011–2018
Newborn Screening for Identification & Prospective Followup of Infants with SMA
National Institute of Child Health and Human Development · R01
Contact PI · $4.3M · Massachusetts General Hospital
- 2007–2013
Therapeutic Opportunities in Spinal Muscular Atrophy
National Institute of Child Health and Human Development · R01
Contact PI · $1.5M · Utah State Higher Education System--University of Utah
Clinical trials
- 2016
Prospective Evaluation of Infants With Spinal Muscular Atrophy:
Principal investigator · Unknown
Massachusetts General Hospital
- 2011–2013
Study of Kuvan Treatment in Adults With GTPCH Deficiency
Principal investigator · Completed · Phase 1, Phase 2
University of Utah
- 2009–2011
Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO)
Principal investigator · Completed · Phase 1, Phase 2
University of Utah
- 2008–2012
CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I
Principal investigator · Completed · Phase 1, Phase 2
University of Utah
