Grants per year
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
2014 | Postdoctoral Fellowship, Harvard University |
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
Molecular Endocrinology, PhD, Imperial College London
… → 2008
Research interests keywords
- Amyotrophic Lateral Sclerosis
- Cell Biology
- Genomics
- Neurogenetics
- Neuroscience
- Stem Cells
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Collaborations and top research areas from the last five years
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Developing a Dual Targeting siRNASO Oligonucleotide Therapy for Amyotrophic Lateral Sclerosis Patients
Kiskinis, E. (PD/PI)
5/1/25 → 4/30/27
Project: Research project
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Targeting mitochondria complex I in Parkinson's
Chandel, N. (PD/PI), Davidson, S. (Co-PD/PI) & Kiskinis, E. (Co-PD/PI)
Michael J. Fox Foundation for Parkinson's Research
2/1/25 → 1/31/27
Project: Research project
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KCNQ2 Biomarker for Precision Medicine in ALS
Kiskinis, E. (PD/PI)
10/1/24 → 9/30/26
Project: Research project
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Refining iPSC-Based Spinal Cord Model Systems by Fabricating Developmentally Programmed Extracellular Matrix Cues
Kiskinis, E. (PD/PI)
9/1/24 → 7/31/29
Project: Research project
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CNS Demyelination: Initiation, Protection, and Correction
Popko, B. (PD/PI), Elbaz-Eilon, B. (Co-Investigator), Kiskinis, E. (Co-Investigator), Savas, J. N. (Co-Investigator) & Wong, Y. (Co-Investigator)
National Institute of Neurological Disorders and Stroke
5/15/24 → 4/30/32
Project: Research project
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2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
Peck, A., Dadi, A., Yavarow, Z., Alfano, L. N., Anderson, D., Arkin, M. R., Chou, T. F., D'Ambrosio, E. S., Diaz-Manera, J., Dudley, J. P., Elder, A. G., Ghoshal, N., Hart, C. E., Hart, M. M., Huryn, D. M., Johnson, A. E., Jones, K. B., Kimonis, V., Kiskinis, E. & Lee, E. B. & 21 others, , Apr 2025, In: Neurobiology of Disease. 207, 106861.Research output: Contribution to journal › Review article › peer-review
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Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations
Chi, W. & Kiskinis, E., Dec 2024, In: Scientific reports. 14, 1, 3587.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
SeqVerify: An accessible analysis tool for cell line genomic integrity, contamination, and gene editing outcomes
Pierson Smela, M., Pepe, V., Lubbe, S. J., Kiskinis, E. & Church, G. M., Oct 8 2024, In: Stem cell reports. 19, 10, p. 1505-1515 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
The Need for Speed; Investigating Channelopathy-Associated Epilepsy Using High Throughput Electrophysiological Approaches
George, A. L. & Kiskinis, E., Sep 1 2024, In: Epilepsy Currents. 24, 5, p. 345-349 5 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis
Tsioras, K., Smith, K. C., Edassery, S. L., Garjani, M., Li, Y., Williams, C., McKenna, E. D., Guo, W., Wilen, A. P., Hark, T. J., Marklund, S. L., Ostrow, L. W., Gilthorpe, J. D., Ichida, J. K., Kalb, R. G., Savas, J. N. & Kiskinis, E., Oct 31 2023, In: Cell reports. 42, 10, 113160.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations
Datasets
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Additional file 6 of RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3
Ramesh, N. (Creator), Daley, E. L. (Creator), Gleixner, A. M. (Creator), Mann, J. R. (Creator), Kour, S. (Contributor), Mawrie, D. (Contributor), Anderson, E. N. (Creator), Kofler, J. (Creator), Donnelly, C. J. (Creator), Kiskinis, E. (Creator) & Pandey, U. B. (Creator), figshare, 2020
DOI: 10.6084/m9.figshare.13173977, https://springernature.figshare.com/articles/figure/Additional_file_6_of_RNA_dependent_suppression_of_C9orf72_ALS_FTD_associated_neurodegeneration_by_Matrin-3/13173977
Dataset
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Additional file 1 of RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3
Ramesh, N. (Creator), Daley, E. L. (Creator), Gleixner, A. M. (Creator), Mann, J. R. (Creator), Kour, S. (Contributor), Mawrie, D. (Contributor), Anderson, E. N. (Creator), Kofler, J. (Creator), Donnelly, C. J. (Creator), Kiskinis, E. (Creator) & Pandey, U. B. (Creator), figshare, 2020
DOI: 10.6084/m9.figshare.13173962, https://springernature.figshare.com/articles/figure/Additional_file_1_of_RNA_dependent_suppression_of_C9orf72_ALS_FTD_associated_neurodegeneration_by_Matrin-3/13173962
Dataset
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Additional file 3 of RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3
Ramesh, N. (Creator), Daley, E. L. (Creator), Gleixner, A. M. (Creator), Mann, J. R. (Creator), Kour, S. (Contributor), Mawrie, D. (Contributor), Anderson, E. N. (Creator), Kofler, J. (Creator), Donnelly, C. J. (Creator), Kiskinis, E. (Creator) & Pandey, U. B. (Creator), figshare, 2020
DOI: 10.6084/m9.figshare.13173968, https://springernature.figshare.com/articles/figure/Additional_file_3_of_RNA_dependent_suppression_of_C9orf72_ALS_FTD_associated_neurodegeneration_by_Matrin-3/13173968
Dataset