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
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.
Permanent linkBA (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.
Description of Clinical Expertise
Neuromuscular disordersAmyotrophic Lateral Sclerosis
Neuropathy
Disorders of the neuromuscular junction
Description of Research Expertise
Gene TherapyAmyotrophic Lateral Sclerosis
Spinocerebellar Ataxia
Neurodegenerative Disease
Gene Delivery
Animal models
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.Morganroth J, Baer M, Amado DA, Quinn C, Ackrivo J, Elman L. : Expanding ALS Clinical Trial Eligibility by Using Transcutaneous CO2. Northeast ALS Consortium Annual Meeting, Clearwater, FL, October 2023. Oct 2023.
Dratch L, Azage M, Baldwin A, Bardakjian TM, Johnson K, Paul RA, Babaian N, Gonzalez-Alegre P, Elman LB, Quinn C, Scherer SS, Amado DA. : The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics. American Neurological Association Annual Meeting, Philadelphia, PA, September 2023. Sep 2023 Notes: Senior author.
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. 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.
Johnson K, Azage M, Babaian N, Baldwin A, Dratch L, Paul R, Bardakjian TM, Amado DA, Elman LB, Gonzalez-Alegre P, Hamedani A, Quinn C, Ellis C, Scherer SS.: Genetic Testing Trends in Adult Neurology: Increasing Access and Evolving Yield. American Neurological Association Annual Meeting, Philadelphia, PA, September 2023. Sep 2023.
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.
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.
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.
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 2023 Notes: Accepted November 2023.
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 2023 Notes: Accepted October 2023, do not have PMCID yet.