Defne Amado, MD, PhD

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Assistant Professor of Neurology at the Hospital of the University of Pennsylvania
Department: Neurology
Graduate Group Affiliations

Contact information
3W Gates
3400 Spruce Street
Philadelphia, PA 19104
BA (Neuroscience)
Columbia University, 2003.
PhD (Neuroscience)
Perelman School of Medicine at the University of Pennsylvania, 2010.
Perelman School of Medicine at the University of Pennsylvania, 2011.
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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) and related neurodegenerative diseases. 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 and the related disorders frontotemporal dementia and spinocerebellar ataxia, 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 (rotation student)
Katherine Whiteman
Joshua Fuller
Jacob Krassin
Nick Patty
Renee Amado

Prior Trainees and Lab Members:
Alicia Smith
Guillem Chillon Bosch
Michael Kuckyr
Gregory Boyek
Aleksandar Izda
Abigail Dichter
Adina Singer
Fortunay Diatta

Selected Publications

Amado DA, Robbins AB, Smith AR, Whiteman KR, Chillon G, Chen Y, Fuller JA, Izda A, Nelson S, Dichter AI, Monteys AM, Davidson BL. : AAV-based delivery of RNAi targeting Ataxin-2 improves survival, strength, and pathology in mouse models of rapidly and slowly progressive sporadic ALS. bioRxiv February 2024.

Amado DA, Davidson BL: Gene Therapy for ALS: A Review. Molecular Therapy 29(12): 3345-3358, May 2021.

Defne A. Amado, Jaclyn Durkin, Katherine R. Whiteman, Joshua A. Fuller, Nancy M. Bonini, Beverly L. Davidson, Sigrid C. Veasey, and Matthew S. Kayser: Sleep disturbances induced by TDP-43 proteinopathy are rescued by ATXN2 knockdown in Drosophila and mouse models of sporadic ALS. American Neurological Association Annual Meeting, Orlando, FL September 2024.

Defne A. Amado, Alejandro Mas Monteys, Alicia R. Smith, Katherine Whiteman, Guillem Chillon Bosch, Ashley Robbins, Aleksandar Izda, Shareen Nelson, Abigail I. Dichter, Beverly L. Davidson: Improved Survival, Strength, and Neuroinflammation in a Mouse Model of Sporadic ALS after Novel AAV-Mediated Delivery of RNAi Targeting Atxn2. American Neurological Association Annual Meeting, Philadelphia, PA Sep 2023 Notes: This abstract was selected for a plenary presentation as an Emerging Scholars Award candidate and received a travel award, and ultimately won the Emerging Scholars award.

Defne A. Amado, Alejandro Mas Monteys, Katherine Whiteman, Alicia R. Smith, Guillem Chillon Bosch, Aleksandar Izda, Beverly L. Davidson : Novel AAV-Capsid-Mediated Delivery of an RNAi Targeting Atxn2 Extends Survival and Improves Strength and Neuroinflammation in a Mouse Model of Sporadic ALS American Society of Gene and Cell Therapy Annual Meeting, Los Angeles, CA May 2023 Notes: This was presented in the Presidential Symposium plenary session as a Top Abstract of >1600 abstracts.

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.

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.

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Last updated: 06/10/2024
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