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Office
10 Center Dr
BETHESDA, MD
Bethesda, MD 20892Phone+1 202-884-2187
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
- 1 citationsGM1 gangliosidosis type II: Results of a 10-year prospective study.Precilla D'Souza, Cristan Farmer, Jean M Johnston, Sangwoo T Han, David Adams
Genetics in Medicine. 2024-07-01 - 1 citations-Acetyl-l-Leucine and Neurodegenerative Disease.Cynthia J Tifft
The New England Journal of Medicine. 2024-02-01 - 2 citationsGM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.Precilla D'Souza, Cristan Farmer, Jean Johnston, Sangwoo T Han, David Adams
Medrxiv. 2024-01-04
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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