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May 21

Research Bit: Using iPSC derived technology to develop models of genetic ALS

Research Bits
The Packard Center welcomed Evangelos Kiskinis, PhD from the University of Chicago to a recent Investigator's meeting.

Meeting Date: May 21, 2021

Presenter: Evangelos Kiskinis, PhD

Talk Title: Using iPSC derived technology to develop models of genetic ALS


What was the question being asked?

Recent advances in technologies used to identify genes implicated in neurodegenerative diseases has significantly increased our understanding of genetic contributions to ALS. The Kiskinis lab is using patient derived cells in order to understand the mechanisms by which newly identified genetic mutations lead to ALS.

Why is this important for ALS research?

While 90% of ALS patients have no known family history of disease, a large number of genetic mutations have now been associated with ALS. In order to understand the cellular alterations that lead to ALS, it is critical to identify the mechanisms by which genetic mutations disrupt neuronal function.

What was the take-home message?

Recent work in the Kiskinis lab has aimed to identify the proteins that interact with NEK1, a newly identified ALS gene and how in the context of mutations in NEK1, these interactions lead to neuronal dysfunction. The Kiskinis lab has found that pathological decreases in NEK1 expression lead to destabilization of microtubules, a primary “highway” for transport throughout the neuron. Critically, pharmacological intervention to enhance stability of these microtubule highways in cultured neurons, restores multiple neuronal deficits.

How do you think the results of this study might impact future approaches to the treatment of ALS?

Familial and sporadic ALS share common underlying pathologies. Thus, understanding the molecular basis of genetic forms of ALS may provide novel insights into potential therapeutic targets that may be beneficial for not only familial ALS, but also perhaps a subset of sporadic ALS patients.

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