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Office
Center for Genomic Medicine
185 Cambridge St
Boston, MA 02114Phone+1 801-910-6474- Is this information wrong?
Summary
- Dr. Kathryn Swoboda is a neurologist and geneticist, recently retired from clinical practice in Boston, MA. She is the former inaugural Katherine B Sims MD Endowed Chair in Neurogenetics at Massachusetts General Hospital, where she continues to collaborate closely with colleagues at the MGH Center for Genomic Medicine and Harvard Medical School, the American College of Genetics and Genomics Sponsored Newborn Screening Translational Research Network, and the Chan-Zuckerberg Initiative for Patient-Partnered Collaborations in Neurodegeneration. She has more than 180 peer reviewed publications with over 15,000 citations.
Education & Training
Harvard Medical School1994 - 1997
Tufts Medical CenterFellowship, Clinical Neurophysiology, 1995 - 1996
Brigham and Women's Hospital/Massachusetts General Hospital/Harvard Medical SchoolResidency, Neurology, 1990 - 1994
University of Chicago (NorthShore)Internship, Transitional Year, 1990 - 1991
Northwestern University The Feinberg School of MedicineClass of 1990
Certifications & Licensure
MA State Medical License 1996 - 2026
UT State Medical License 1998 - 2016- American Board of Psychiatry and Neurology Neurology
Clinical Trials
- Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Start of enrollment: 2005 Sep 01
- Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy Start of enrollment: 2003 Sep 01
- Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Start of enrollment: 2008 Jan 01
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Publications & Presentations
PubMed
- 8 citationsContinued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Bertini, Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie...> ;Muscle & Nerve. 2023 Aug 1
- 14 citationsDe novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zh...> ;Science Advances. 2022 Aug 19
- 4 citations264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th - 21st 2021.Nora Tula Detering, Alberto Zambon, Niko Hensel, Rashmi Kothary, Kathryn Swoboda, Thomas H Gillingwater, Giovanni Baranello, > ;Neuromuscular Disorders. 2022 Aug 1
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Press Mentions
Integrating Science to Find Cures in Child NeurologyJune 27th, 2020
Biogen's NURTURE Data, and Other News: The Good, Bad and Ugly of BiopharmaJune 16th, 2020
Nusinersen Found Promising for Spinal Muscular AtrophyJanuary 5th, 2017- Join now to see all
Grant Support
- The Utah Regional Network For Excellence In Neuroscience Clinical TrialsNational Institute Of Neurological Disorders And Stroke2011
- Pilot Newborn Screening Project For Identification And Prospective Followup Of InEunice Kennedy Shriver National Institute Of Child Health &Human Development2011
- Therapeutic Opportunities In Spinal Muscular AtrophyEunice Kennedy Shriver National Institute Of Child Health &Human Development2007–2011
- Clinical Trial: Valproic Acid And Carnitine In Patients With Spinal Muscular ATRNational Center For Research Resources2008
- Clinical And Molecular Analysis Of Neuromuscular DiseaseNational Center For Research Resources2007–2008
- Clinical And Genetic Analysis Of Spinal Muscular AtrophyNational Center For Research Resources2007–2008
- Valproic Acid And Carnitine In Patients With Spinal Muscular AtrophyNational Center For Research Resources2006–2007
- Genetic Characterization Of Episodic Neurologic DysfunctionNational Center For Research Resources2004–2006
- Clinical And Molecular Studies In Spinal Muscular AtrophyNational Center For Research Resources2004–2006
Hospital Affiliations
Massachusetts General HospitalBoston, Massachusetts
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