Wishes for Elliott Continues to Forge Breakthroughs in the Science of SCN8A

Today Wishes for Elliott is proud to announce agreements with two leading institutions that will continue to help advance the science of SCN8A.

Once again, Wishes for Elliott is pleased to be collaborating with the prestigious American Epilepsy Society in awarding grants to two Young Investigators pursuing research strategies that passed the scrutinizing peer review process of AES. This year the two grantees are:

Chad Frasier, Ph.D., University of Michigan. Novel mechanisms of SUDEP in SCN8A-EIEE13 patients, Postdoctoral Fellowship, an AES/Wishes for Elliott Fellowship supported by both Wishes for Elliott and AES

This effort will address the serious gap that therapeutics to decrease SUDEP risk or biomarkers to identify patients at risk are currently unavailable. The work will focus on how the expression of mutant channels in the heart may contribute to the mechanism of SUDEP in Epileptic Encephalopathies.

Mariya Chavarha, Stanford University. Voltage imaging for rapid characterization of SCN8A mutant neuronal phenotypes, an AES/Wishes For Elliott Fellowship supported by both Wishes for Elliott and AES

This study will explore how the same mutation in SCN8A can have a different effect on different types of neurons. This is relatively unexplored, likely because labor-intensive electrophysiology experiments are needed to characterize excitability of neurons. This study will use fast and sensitive genetically-encoded voltage indicators to rapidly characterize the effect of SCN8A mutations on firing properties of neurons and study will test the ability of anti-epileptic drugs to correct the effect of mutations.

Additionally, Wishes for Elliott is honored to be partnering with the University of Michigan Department of Human Genetics to help assure the mouse models used for drug testing and other SCN8A research reflect the more severe strain of mutations. The will provide a critical six months of funding to allow postdoctoral fellow Rosie Bunton-Stasyshyn, Ph.D. to continue this important work to bring the project to the point of

  • securely establishing the new mouse line and

  • generating data for an initial publication to distribute information about this new research tool.

We are deeply grateful to all our supporters – old and new – large and small – for helping make these important grants possible.

The overall AES Announcement and Joint Release with the University of Michigan are linked below.

Also included is a more detailed summary of the planned studies by the joint AES/Wishes for Elliott award recipients.

Following is a link to the AES announcement of all their Early Career Awards:

https://www.aesnet.org/research/Early_Career_Funding/early_career_awards

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