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
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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The interplay between HIV-1 and amyloid precursor protein in infection and neurotoxicity
National Institute of Neurological Disorders and Stroke
4/1/23 → 3/31/28
Project: Research project
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SyncroPatch 384 Automated Patch Clamp Instrument
George, A. L., Burridge, P., DeCaen, P. G., Horvath, C. M., Kearney, J. A., Kiskinis, E., McNally, E. M., Miller, R. J., Prakriya, M., Smith, R. S., Surmeier Jr, D. J. & Vanoye, C. G.
Office of the Director, National Institutes of Health
3/1/23 → 2/29/24
Project: Research project
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Orbitrap Eclipse Mass Spectrometer for Northwestern University Neuroproteomic Collaboration Hub
Savas, J. N., Caraveo Piso, G., Contractor, A., Disterhoft, J. F., Duncan, F. E., Foltz, D. R., Goel, R., Kafader, J. O., Kalb, R. G., Kelleher, N. L., Kiskinis, E., Krainc, D., Mendillo, M. L., Menichella, D. M., Penzes, P., Smith, G. A., Surmeier Jr, D. J., Vassar, R. J., Walsh, D. & Zelano, C.
Office of the Director, National Institutes of Health
3/1/23 → 2/29/24
Project: Research project
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Defining the Mechanisms by Which Mutations in DNAJC7 Increase Susceptibility to ALS/FTD
National Institute of Neurological Disorders and Stroke
1/18/23 → 12/31/24
Project: Research project
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Investigating the efficacy of microtubule-targeting agents and uORF ASOs to target NEK1 loss-of-function in ALS
Massachusetts General Hospital
7/1/22 → 6/30/24
Project: Research project
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Artificial extracellular matrix scaffolds of mobile molecules enhance maturation of human stem cell-derived neurons
Álvarez, Z., Ortega, J. A., Sato, K., Sasselli, I. R., Kolberg-Edelbrock, A. N., Qiu, R., Marshall, K. A., Nguyen, T. P., Smith, C. S., Quinlan, K. A., Papakis, V., Syrgiannis, Z., Sather, N. A., Musumeci, C., Engel, E., Stupp, S. I. & Kiskinis, E., Feb 2 2023, In: Cell stem cell. 30, 2, p. 219-238.e14Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell–Derived Neurons
Parnell, E., Culotta, L., Forrest, M. P., Jalloul, H. A., Eckman, B. L., Loizzo, D. D., Horan, K. K. E., Dos Santos, M., Piguel, N. H., Tai, D. J. C., Zhang, H., Gertler, T. S., Simkin, D., Sanders, A. R., Talkowski, M. E., Gejman, P. V., Kiskinis, E., Duan, J. & Penzes, P., Jul 15 2023, In: Biological psychiatry. 94, 2, p. 153-163 11 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import
Mann, J. R., McKenna, E. D., Mawrie, D., Papakis, V., Alessandrini, F., Anderson, E. N., Mayers, R., Ball, H. E., Kaspi, E., Lubinski, K., Baron, D. M., Tellez, L., Landers, J. E., Pandey, U. B. & Kiskinis, E., Aug 18 2023, In: Science Advances. 9, 33, p. eadi5548Research output: Contribution to journal › Article › peer-review
Open Access -
Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls
Simkin, D., Papakis, V., Bustos, B. I., Ambrosi, C. M., Ryan, S. J., Baru, V., Williams, L. A., Dempsey, G. T., McManus, O. B., Landers, J. E., Lubbe, S. J., George, A. L. & Kiskinis, E., Apr 12 2022, In: Stem cell reports. 17, 4, p. 993-1008 16 p.Research output: Contribution to journal › Article › peer-review
Open Access20 Scopus citations -
NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility
Gleixner, A. M., Verdone, B. M., Otte, C. G., Anderson, E. N., Ramesh, N., Shapiro, O. R., Gale, J. R., Mauna, J. C., Mann, J. R., Copley, K. E., Daley, E. L., Ortega, J. A., Cicardi, M. E., Kiskinis, E., Kofler, J., Pandey, U. B., Trotti, D. & Donnelly, C. J., Dec 2022, In: Nature communications. 13, 1, 3380.Research output: Contribution to journal › Article › peer-review
Open Access14 Scopus citations
Datasets
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Additional file 2 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.13173965, https://springernature.figshare.com/articles/figure/Additional_file_2_of_RNA_dependent_suppression_of_C9orf72_ALS_FTD_associated_neurodegeneration_by_Matrin-3/13173965
Dataset
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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 4 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.13173971, https://springernature.figshare.com/articles/figure/Additional_file_4_of_RNA_dependent_suppression_of_C9orf72_ALS_FTD_associated_neurodegeneration_by_Matrin-3/13173971
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