About Our Lab
Our research program 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 (iPSCs) 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. Find news and more information about our lab.
Generation of Spinal Motor Neurons from Human Pluripotent Stem Cells.Methods Mol Biol. 2017;1538:53-66. Santos DP, Kiskinis PMID: 27943183
Pathways Disrupted in Human ALS Motor Neurons Identified Through Genetic Correction of Mutant SOD1.Cell Stem Cell, 2014 Jun 5;14(6):781-95. Kiskinis E*, Sandoe J*, Boulting G, Williams LA, Wainger BJ, Mikkilineni S, Merkle F, Han S, Peng T, Ziller M, Oakley DH, Ichida J, Dicostanza S, Atwater N, Maeder ML, Goodwin MJ, Joung K, Woolf CJ, Brown RH, Eggan K. PMID: 24704492
Reference Maps Of Human ES And iPS Cell Variation Enable High-Throughput Characterization Of Pluripotent Cell Lines.Cell. 2011 Feb 4;144(3):439-52. Bock C*, Kiskinis E*, Verstappen G*, Gu H, Boulting G, Smith ZD, Ziller M, Grinke A, Croft GF, Weygandt-Amoroso M, Oakley DH, Eggan K, Meissner A. PMID: 21295703