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Office
10 Center Dr
BETHESDA, MD
Bethesda, MD 20892Phone+1 202-884-2187- Is this information wrong?
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 - 2023
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 and Glycoprotein Lysosomal Storage 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
- Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F Macnamara, Jennifer Lange, Anna Lehman, Patricia M Zerfas, Jennifer L Murp...> ;NPJ Genomic Medicine. 2023 Feb 10
- Gene expression changes in Tay-Sachs disease begin early in fetal brain development.Sangwoo T Han, Ashley Hirt, Elena-Raluca Nicoli, Mari Kono, Camilo Toro, Richard L Proia, Cynthia J Tifft> ;Journal of Inherited Metabolic Disease. 2023 Jan 26
- Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.Elena-Raluca Nicoli, Mylene Huebecker, Sangwoo T Han, Karolyn Garcia, Jeeva Munasinghe, Martin Lizak, Yvonne Latour, Robin Yoon, Brianna Glase, Michal Tyrlik, Morteza ...> ;Molecular Genetics and Metabolism. 2023 Feb 1
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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
National Organization for Rare Disorders (NORD) Announces Honorees for 2017 Rare Impact AwardsMarch 15th, 2017
Sio Gene Therapies Announces CSF Reductions in GM1 Ganglioside from Clinical Trial of AXO-AAV-gm1 Gene TherapyMay 14th, 2021- An Experimental Gene Therapy Was Little Alissa's Only Hope. Now, Instead of Certain Death, She Faces an Uncertain FutureApril 26th, 2021
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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
Hospital Affiliations
Walter Reed National Military Medical CenterBethesda, Maryland
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