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Personal profile

Research Interests

Our research is focused on addressing fundamental aspects of the biology of human neurons in the context of physiological conditions and in the context of disease. We have two clinical interests, motor neuron disease and epileptic channelopathies. We utilize patient-specific induced pluripotent stem cells and direct reprogramming methods to generate different neuronal subtypes implicated in these diseases. We then study these cells by a combination of genomic approaches and functional physiological assays. Our hope is that these disease model systems will help us identify points of effective and targeted therapeutic intervention.

Training Experience

2014Postdoctoral Fellowship, Harvard University

Education/Academic qualification

PhD, Imperial College London

… → 2008

Research interests

  • Amyotrophic Lateral Sclerosis
  • Cell Biology
  • Genomics
  • Neurogenetics
  • Neuroscience
  • Stem Cells

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  • Research Output

    Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity

    Ortega, J. A., Daley, E. L., Kour, S., Samani, M., Tellez, L., Smith, H. S., Hall, E. A., Esengul, Y. T., Tsai, Y. H., Gendron, T. F., Donnelly, C. J., Siddique, T., Savas, J. N., Pandey, U. B. & Kiskinis, E., Apr 8 2020, In : Neuron. 106, 1, p. 90-107.e13

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Impact of traumatic brain injury on amyotrophic lateral sclerosis: From bedside to bench

    Franz, C. K., Joshi, D., Daley, E. L., Grant, R. A., Dalamagkas, K., Leung, A., Finan, J. D. & Kiskinis, E., Jan 1 2019, In : Journal of neurophysiology. 122, 3, p. 1174-1185 12 p.

    Research output: Contribution to journalReview article

  • 2 Scopus citations

    Peptide–siRNA Supramolecular Particles for Neural Cell Transfection

    Hernandez-Garcia, A., Álvarez, Z., Simkin, D., Madhan, A., Pariset, E., Tantakitti, F., de J. Vargas-Dorantes, O., Lee, S. S., Kiskinis, E. & Stupp, S. I., Feb 6 2019, In : Advanced Science. 6, 3, 1801458.

    Research output: Contribution to journalArticle

  • 3 Scopus citations

    Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS

    Baron, D. M., Matheny, T., Lin, Y. C., Leszyk, J. D., Kenna, K., Gall, K. V., Santos, D. P., Tischbein, M., Funes, S., Hayward, L. J., Kiskinis, E., Landers, J. E., Parker, R., Shaffer, S. A. & Bosco, D. A., Jul 1 2019, In : Human molecular genetics. 28, 13, p. 2143-2160 18 p.

    Research output: Contribution to journalArticle

    Open Access
  • All-Optical Electrophysiology for High-Throughput Functional Characterization of a Human iPSC-Derived Motor Neuron Model of ALS

    Kiskinis, E., Kralj, J. M., Zou, P., Weinstein, E. N., Zhang, H., Tsioras, K., Wiskow, O., Ortega, J. A., Eggan, K. & Cohen, A. E., Jun 5 2018, In : Stem cell reports. 10, 6, p. 1991-2004 14 p.

    Research output: Contribution to journalArticle

  • 10 Scopus citations