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
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. October 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. September 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. September 2023 Notes: This abstract won an Emerging Scholars award and a travel 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. September 2023.
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 May 2023.
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.
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 relates to lower motor neuron dysfunction. International Society for Frontotemporal Dementia Annual Meeting November 2022.
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 July 2022.
Boyek G, Smith A, Whiteman K, Davidson B, Amado D.: Quantitating TDP-43 localization for genetic targeting of future ALS therapeutics. American Association for the Advancement of Science (AAAS) Annual Meeting February 2022.
Boyek G, Smith A, Whiteman K, Davidson B, Amado D. : Quantifying TDP-43 proteinopathy with immunofluorescence. Drexel University Discovery Day October 2021.