Defne Amado, MD, PhD
Assistant Professor of Neurology at the Hospital of the University of Pennsylvania
Department: Neurology
Contact information
3W Gates
3400 Spruce Street
Philadelphia, PA 19104
3400 Spruce Street
Philadelphia, PA 19104
Graduate Group Affiliations
Publications
Education
BA (Neuroscience)
Columbia University, 2003.
PhD (Neuroscience)
Perelman School of Medicine at the University of Pennsylvania, 2010.
MD
Perelman School of Medicine at the University of Pennsylvania, 2011.
BA (Neuroscience)
Columbia University, 2003.
PhD (Neuroscience)
Perelman School of Medicine at the University of Pennsylvania, 2010.
MD
Perelman School of Medicine at the University of Pennsylvania, 2011.
Post-Graduate Training
Intern in Internal Medicine, Hospital of the University of Pennsylvania, 2011-2012.
Resident in Neurology, Hospital of the University of Pennsylvania, 2012-2015.
Fellow in Neuromuscular Disorders, University of Pennsylvania, 2015-2016.
Postdoctoral Research Fellow in Neurodegenerative Disease, University of Pennsylvania, 2016-2020.
Postdoctoral Research Fellow in Gene Therapy, University of Pennsylvania, 2018-2021.
Intern in Internal Medicine, Hospital of the University of Pennsylvania, 2011-2012.
Resident in Neurology, Hospital of the University of Pennsylvania, 2012-2015.
Fellow in Neuromuscular Disorders, University of Pennsylvania, 2015-2016.
Postdoctoral Research Fellow in Neurodegenerative Disease, University of Pennsylvania, 2016-2020.
Postdoctoral Research Fellow in Gene Therapy, University of Pennsylvania, 2018-2021.
Certifications
American Board of Psychiatry and Neurology (ABPN), 2015.
Permanent linkAmerican Board of Psychiatry and Neurology (ABPN), 2015.
Description of Clinical Expertise
Dr. Amado's clinical expertise is in amyotrophic lateral sclerosis (ALS), treating patients in the Penn Comprehensive ALS Center. She also has a general neuromuscular clinic with a focus on inherited and acquired neuropathies, and attends on the inpatient service.Description of Other Expertise
See our lab homepage for additional information:https://pntc.med.upenn.edu/amado-lab/amado-lab
Description of Research Expertise
Research Interests: Dr. Amado's research interests center on using gene therapy-based approaches to understand and develop treatments for neurodegenerative diseases.Keywords: Gene therapy, AAV vectors, Gene silencing, Neurodegenerative disease.
Research Details: I am an Assistant Professor of Neurology and a physician-scientist whose lab specializes in pathobiologic discovery and gene therapy-based therapeutic development for amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), spinocerebellar ataxia (SCA), and related neurodegenerative disorders. I have a strong gene therapy and neurobiology background, completing my PhD with Dr. Jean Bennett and postdoctoral training with Dr. Alice Chen-Plotkin and Dr. Beverly Davidson before starting my lab. Our lab works across models from iPSCs to mice, primarily using AAV-based delivery systems. Our interests center on understanding the pathogenic basis of neurodegeneration in ALS/FTD, SCA and related diseases as well as on using advanced gene therapy techniques to develop therapeutic interventions at points along these pathways.
Clinically, I spend 20% of my time treating patients with ALS, which may be of particular interest to MD/PhD students and to graduate students interested in translational research. Our lab prioritizes fostering an inclusive, diverse, and fun environment in which trainees are comfortable bringing their authentic selves to achieve our collective goals.
Current Lab Personnel:
Sarina Smith (Graduate student, G&E)
Martin Rosenfeld (MD/PhD student, NGG)
Taylor McCorkle (Postdoctoral Fellow)
Katherine Whiteman (Research Specialist)
Prior Trainees and Lab Members:
Alicia Smith
Guillem Chillon Bosch
Gregory Boyek
Aleksandar Izda
Abigail Dichter
Joshua Fuller
Jacob Krassin
Nick Patty
Renee Amado
Selected Publications
Amado DA, Robbins AB, Whiteman KR, Smith AR, Chillon G, Chen Y, Fuller JA, Patty NA, Izda A, Cheng C, Nelson S, Dichter AI, Mazzoni EO, Monteys AM, Davidson BL. : AAV-based delivery of RNAi targeting ataxin-2 improves survival and pathology in TDP-43 mice. Nature Communications 16(1): 5334, Jun 2025 Notes: Accepted in principle May 2025.Amado DA, Davidson BL: Gene Therapy for ALS: A Review. Molecular Therapy 29(12): 3345-3358, May 2021.
Amado DA, Rieders JM, Diatta F, Hernandez-Con P, Singer A, Mak JT, Zhang J, Lancaster E, Davidson BL, Chen-Plotkin AS. : AAV-mediated progranulin delivery to a mouse model of progranulin deficiency causes T cell-mediated toxicity. Molecular Therapy 27(2): 465-478, Feb 2019.
Masrori P, Amado DA. : RAN translation as a dominant pathogenic axis in C9ORF72-associated ALS and FTD models. Molecular Neurodegeneration 21(1): 46, Jun 2026.
Amado DA, Robbins A. : The Emerging Landscape of Targeted Therapeutics for Genetic Neuromuscular Disorders. Practical Neurology. Bryn Mawr Communications III, LLC, Aug 2023 Notes: https://practicalneurology.com/articles/2023-aug/the-emerging-landscape-of-targeted-therapeutics-for-genetic-neuromuscular-disorders.
Dawicki-McKenna J, Felix A, Waxman E, Cheng C, Amado DA, Ranum PT, Bogush A, Dungan LV, Maguire JA, Gagne AL, Heller EA, French DL, Davidson BL, Prosser B.: Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching. Nature Communications 14(1): 2628, May 2023.
Mao F, Robinson J, Unger T, Amado DA, Elman L, Grossman M, Weintraub D, Wolk D, Lee E, Van Deerlin V, Porta SSs, Lee V, Trojanowski JQ, Chen-Plotkin AS. : TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy. Acta Neuropathologica 142(4): 629-642, Oct 2021.
Amado D, Mingozzi F, Hui D, Bennicelli JL, Wei Z, Chen Y, Bote E, Grant RL, Golden JA, Narfstrom K, Syed NA, Orlin SE, High KA, Maguire AM, Bennett J.: Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness. Science Translational Medicine 2(21): 21ra16, Mar 2010.
Dratch L, Bardakjian TM, Johnson K, Babaian N, Gonzalez-Alegre P, Elman L, Quinn C, Guo MH, Scherer SS, Amado DA. : The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics. Biology 13(2): 93, Feb 2024.
Posavi M, Diaz-Ortiz M, Liu B, Swanson CR, Skrinak RT, Hernandez-Con P, Amado DA, Fullard M, Rick J, Siderowf A, Weintraub D, McCluskey L, Trojanowski JQ, Dewey RB Jr, Huang X, Chen-Plotkin AS.: Characterization of Parkinson's disease using blood-based biomarkers: A multicohort proteomic analysis. PLoS Medicine 16(10): e1002931, Oct 2019.
Cousins KAQ, Shaw LM, Shellikeri S, Dratch L, Rosario L, Elman LB, Quinn C, Amado DA, Wolk DA, Tropea TF, Chen-Plotkin A, Irwin DJ, Grossman M, Lee EB, Trojanowski JQ, McMillan CT.: Elevated plasma phosphorylated tau 181 in amyotrophic lateral sclerosis. Annals of Neurology 92(5): 807-818, Jul 2022.
Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon S, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. : Genetic testing in adults with neurological disorders: Indications, approach, and clinical impacts. Journal of Neurology 271(2): 733-747, Feb 2024.
Baldwin A, Copeland J, Azage M, Dratch L, Johnson K, Paul RA, Amado DA, Baer M, Deik AF, Elman LB, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA.: Disparities in genetic testing for neurologic disorders. Neurology 102(6): e209161, Mar 2024.
Shen T, Vogel JW, Duda J, Phillips JS, Cook PA, Gee J, Elman L, Quinn C, Amado DA, Baer M, Massimo L, Grossman M, Irwin DJ, McMillan C. : Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum. Translational Neurodegeneration 12(1): 57, Dec 2023.
Shellikeri S, Cho S, Ash S, Gonzalez-Recober C, McMillan C, Elman L, Quinn C, Amado DA, Baer M, Irwin DJ, Massimo L, Olm C, Liberman M, Grossman M, Nevler N. : Digital markers of motor speech impairments in natural speech of patients with ALS-FTD spectrum disorder. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 25(3-4): 317-325, Dec 2023 Notes: Epub 2023 Dec 5.
Cortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Psciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli P, Fernandez-Eulate G, Haddad S, Laura M, Rossor AM, Vegezzi E, Facchini S, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice H, Achenbach P, Schone U, Alon T, Deschauer M, Cordts I, Obermaier C, Winter N, Creigh P, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt J, Brennan K, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar K, Kennerson M, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali S, Yi-Chung L, Basak AN, Hamed S, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Inherited Neuropathy Consortium, Zuchner S. : Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. Brain 148(10): 3737-3747, Feb 2025.
Rhodes E, Alfa S, Jin H, Massimo L, Elman L, Amado DA, Baer M, Quinn C, McMillan CT.: Cognitive reserve in ALS: The role of occupational skills and requirements. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration April 2024.
Quinn CQ, Baer M, Amado DA, Kelley M, Elman L.: A Single ALS Center Experience with Clinical use of Sodium Phenylbutyrate-Taurursodiol. Muscle and Nerve May 2024.
Spencer BE, Xie SX, Ohm DT, Elman L, Quinn C, Amado DA, Baer M, Lee EB, van Deerlin VM, Dratch L, Massimo L, Irwin DJ, McMillan CT. : Cumulative incidence of motor and cognitive features in the ALS-FTD spectrum. Brain Communications Sep 2025 Notes: Accepted 9/2/25.