SCN8A Research
 
Consortium

A Closer Look
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We developed this Research Consortium as an evolution of our scientific meetings. These quarterly joint lab meetings allow researchers—in a safe space— to share their current work and challenges and get feedback from colleagues. As our scientific meetings have been, this space has also has been a place to develop collaborations and partnerships that will hopefully expedite finding answers for our children.

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May 2021 Update

The SCN8A Research Consortium recently convened for the third joint lab meeting. The participants shared updates and issues raised in their ongoing research at multiple labs across the country studying SCN8A epilepsy and related disorders.
 

These regular sessions represent an important step forward, making open communication and collaboration the norm in our SCN8A community. This helps accelerate the pace and impact of research in generating results to improve the understanding of SCN8A.

Sophie Hill, a third year Ph.D. student in Dr. Miriam Meisler’s lab at the University of Michigan shared an update on ongoing research on a recently developed ASO. This ASO has already been demonstrated as effective in reducing seizures and extending the life of SCN8A mice in work published by Dr. Meisler and her team.

 

A second presentation was made by Dr. Lalitha Madhavan, a neuroscientist at the University of Arizona specializing in cell biology and age degeneration. She is bringing her considerable expertise to the study of SCN8A, collaborating with Dr. Hammer. 

In an exciting new development, Dr. Madhavan has successfully developed a new iPSC derived from Shay Hammer’s preserved cord blood. iPSC’s provide a powerful tool to study neuronal development and the skills SCN8A mice develop over time as they mature.

 

The Consortium actively assesses their progress in bringing better treatments to families – and over the coming months a number of participants will be guests at several of our family variant network meetings. We will also be exploring new ways to keep families informed and engaged in important and innovative SCN8A research.