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Home » Kiskinis Receives Early Career Award to Study ALS, Epilepsy
Campus News

Kiskinis Receives Early Career Award to Study ALS, Epilepsy

By Will DossOct 24, 2019
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Evangelos Kiskinis, PhD, assistant professor in the Ken and Ruth Davee Department of Neurology, Division of Neuromuscular Disease, has received a New York Stem Cell Foundation – Robertson Investigator Award. (Photo credit: Randy Belice for Northwestern University)

Evangelos Kiskinis, PhD, assistant professor in the Ken and Ruth Davee Department of Neurology, Division of Neuromuscular Disease, has received a New York Stem Cell Foundation – Robertson Investigator Award.

The $1.5 million early career investigator award will support the Kiskinis laboratory at the Les Turner ALS Center as they work to understand the mechanisms that cause amyotrophic lateral sclerosis (ALS) and pediatric epilepsy.

“I am delighted and deeply honored to receive this award,” said Kiskinis, who is also an assistant professor of Physiology. “I am grateful to all the people in my lab that have been working very hard these last four years, as well as to a number of collaborators across different disciplines including Al George and Sam Stupp. I am also grateful to the Les Turner ALS Foundation that has provided crucial seed funding to my lab the past few years.”

Kiskinis and his collaborators have pioneered the use of induced pluripotent stem cell (iPSC) technologies for the development of patient-specific disease models, allowing for direct study and manipulation of motor neurons with ALS. For example, Kiskinis and his team can produce motor neurons from patients and compare them with ones generated from healthy control individuals, looking for disease-related phenotypes or screen for potential therapeutic compounds.

In cases where a disease-causing mutation is present, they can use CRISPR-Cas9 gene editing to reverse it, creating a stem cell line identical to the patient’s cells, but without the mutation — an isogenic control line.

“This allows us to test whether a phenotype or defect in a motor neuron is caused by that particular mutation,” Kiskinis said.

A neuron with green fluorescent protein undergoing electrophysiological analysis. Image courtesy of Dina Simkin, PhD, postdoctoral fellow in the Kiskinis Laboratory.

While they plan to continue their study of these ALS models, they are turning their scientific talents to pediatric epilepsy as well, and are in the beginning stages of developing a similar patient-derived stem cell model to investigate pediatric epilepsy.

“Our goals are to provide novel insights into disease mechanisms and identify points for targeted therapeutic intervention for ALS and epilepsy,” Kiskinis said.

The award will fund the laboratory for five years, freeing the investigators to spend time on projects with a long-term vision, according to Kiskinis.

“This is fundamentally important for my lab for two reasons: not only will it provide long-term stability and opportunity for growth but it will also allow us to pursue high-risk, high reward new projects that are not easily fundable from traditional sources,” Kiskinis said.

The New York Stem Cell Foundation (NYSCF) is a nonprofit organization that supports and conducts innovative stem cell research, aiming to accelerate development of cures for major diseases such as ALS, Alzheimer’s disease and cancer. Kiskinis previously received a NYSCF – Druckenmiller post-doctoral fellowship.

Kiskinis is a member of the Les Turner ALS Center at Northwestern Medicine, whose mission is to strive for a future without ALS by accelerating leading-edge research while providing life-enhancing treatment to people living with ALS.

Awards Genetics Neurology and Neuroscience
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