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
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 2023 Notes: Accepted for publication.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.
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 October 2021.
Bhatla A, Asmar M, Amado DA. : Multiple streptococcal brain abscesses in a patient taking Secukinumab. Neurology Clinical Practice October 2021 Notes: https://cp.neurology.org/content/early/2020/09/08/CPJ.0000000000000964.
Amado DA, Izda A, Keiser MS, Ramachandran PS, Davidson BL.: Efficient Knockdown of ATXN2 in Motor Cortex and Anterior Horn Cells using AAV-mediated Delivery of RNAi. American Neurological Association (ANA) 146th Annual Meeting October 2021.
Amado DA, Davidson BL: Gene Therapy for ALS: A Review. Molecular Therapy May 2021.
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, October 2019.