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Defne Amado, MD, PhD
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Assistant Professor of Neurology at the Hospital of the University of Pennsylvania
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Department: Neurology
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Contact information
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3W Gates
35 3400 Spruce Street
Philadelphia, PA 19104
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35 3400 Spruce Street
Philadelphia, PA 19104
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Education:
21 7 BA 19 (Neuroscience) c
2c Columbia University, 2003.
21 8 PhD 19 (Neuroscience) c
56 Perelman School of Medicine at the University of Pennsylvania, 2010.
21 7 MD c
56 Perelman School of Medicine at the University of Pennsylvania, 2011.
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21 7 BA 19 (Neuroscience) c
2c Columbia University, 2003.
21 8 PhD 19 (Neuroscience) c
56 Perelman School of Medicine at the University of Pennsylvania, 2010.
21 7 MD c
56 Perelman School of Medicine at the University of Pennsylvania, 2011.
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Links
94 Search PubMed for articles
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Permanent link94 Search PubMed for articles
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57 Keywords: Gene therapy, AAV vectors, Gene silencing, Neurodegenerative disease.
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350 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.
16d 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.
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1f Current Lab Personnel:
27 Sarina Smith (rotation student)
1a Katherine Whiteman
15 Joshua Fuller
15 Jacob Krassin
12 Nick Patty
13 Renee Amado
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27 Prior Trainees and Lab Members:
14 Alicia Smith
1d Guillem Chillon Bosch
16 Michael Kuckyr
15 Gregory Boyek
17 Aleksandar Izda
17 Abigail Dichter
14 Adina Singer
16 Fortunay Diatta
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Description of Clinical Expertise
118 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.71
Description of Research Expertise
b6 Research Interests: Dr. Amado's research interests center on using gene therapy-based approaches to understand and develop treatments for neurodegenerative diseases.8
57 Keywords: Gene therapy, AAV vectors, Gene silencing, Neurodegenerative disease.
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350 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.
16d 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.
8
1f Current Lab Personnel:
27 Sarina Smith (rotation student)
1a Katherine Whiteman
15 Joshua Fuller
15 Jacob Krassin
12 Nick Patty
13 Renee Amado
8
27 Prior Trainees and Lab Members:
14 Alicia Smith
1d Guillem Chillon Bosch
16 Michael Kuckyr
15 Gregory Boyek
17 Aleksandar Izda
17 Abigail Dichter
14 Adina Singer
16 Fortunay Diatta
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206 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 Notes: Oral presentation, Sleep Disorders and Circadian Rhythms special interest group.
299 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 September 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.
231 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.
15b 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.
185 Amado DA, Robbins A. : The Emerging Landscape of Targeted Therapeutics for Genetic Neuromuscular Disorders. Practical Neurology. Bryn Mawr Communications III, LLC, August 2023 Notes: https://practicalneurology.com/articles/2023-aug/the-emerging-landscape-of-targeted-therapeutics-for-genetic-neuromuscular-disorders.
178 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.
179 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.
18d 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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Selected Publications
ae Amado DA, Davidson BL: Gene Therapy for ALS: A Review. Molecular Therapy 29(12): 3345-3358, May 2021.206 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 Notes: Oral presentation, Sleep Disorders and Circadian Rhythms special interest group.
299 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 September 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.
231 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.
15b 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.
185 Amado DA, Robbins A. : The Emerging Landscape of Targeted Therapeutics for Genetic Neuromuscular Disorders. Practical Neurology. Bryn Mawr Communications III, LLC, August 2023 Notes: https://practicalneurology.com/articles/2023-aug/the-emerging-landscape-of-targeted-therapeutics-for-genetic-neuromuscular-disorders.
178 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.
179 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.
18d 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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