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10 Center DrBETHESDA, MDBethesda, MD 20892
Phone+1 202-884-2187
Dr. Tifft is on Doximity
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Education & Training
National Capital ConsortiumResidency, Pediatrics, 1986 - 1987
University of Texas Health Science Center at HoustonResidency, Pediatrics, 1984 - 1986
McGovern Medical School at UTHealthClass of 1983
Certifications & Licensure
MD State Medical License 1986 - 2025
DC State Medical License 1991 - 2022
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics
Clinical Trials
- Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders Start of enrollment: 2002 Feb 06
- Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Start of enrollment: 2004 Jul 01
Publications & Presentations
PubMed
- RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.Sarah Silverstein, Thomas Cassini, Jiayu Fu, Barbara Pusey, Ellen Macnamara
Molecular Genetics and Metabolism. 2025-05-01 - Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabo...Josephine Kolstad, Christopher Zoppo, Jean M Johnston, Precilla D'Souza, Anna Luisa Kühn
Molecular Genetics and Metabolism. 2025-05-01 - Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases.Connor J Lewis, Selby I Chipman, Jean M Johnston, Maria T Acosta, Camilo Toro
Journal of Neurology. 2025-04-23
Journal Articles
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseCarlos A Bacino, Vandana Shashi, Euan A Ashley, Cynthia J Tifft, William A Gahl, Brendan H Lee, John J Mulvihill, Rizwan Hamid, Matthew T Wheeler, Jonathan A Bernstein..., The New England Journal of Medicine
Press Mentions
Sio Gene Therapies Announces CSF Reductions in GM1 Ganglioside from Clinical Trial of AXO-AAV-gm1 Gene TherapyMay 13th, 2021- An Experimental Gene Therapy Was Little Alissa's Only Hope. Now, Instead of Certain Death, She Faces an Uncertain FutureApril 25th, 2021
- Sio Gene Therapies Announces First Patient Dosed in High-Dose Cohort of AXO-AAV-gm1 Clinical Trial in Patients with GM1 GangliosidosisDecember 2nd, 2020
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Grant Support
- An Exploratory, Open-Label Study Of The Safety AndNational Center For Research Resources2010
- Pharmacokinetics, Safety, And Tolerability Of Zavesca (MIGLUSTAT) In PatientsNational Center For Research Resources2006–2008
- Pathogenesis And Natural History Of The Glycosphingolipd (GSL) StorageNational Center For Research Resources2006
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