The FamilieSCN2A Foundation, Inc Awards $100K in Inaugural Rare Genetic Research Grants

Press Release ( - EAST LONGMEADOW, Mass. - Jun 18, 2019 - ​​​​The FamilieSCN2A Foundation has announced an award of $100,000 to two post-doctoral research efforts in its inaugural “Action Potential” Research Grant initiative to promote scientific understanding of rare but potentially devastating SCN2A gene mutations.

The grants are designed to support research in the 2019 funding cycle on changes to the SCN2A gene, which have been linked to a broad spectrum of epilepsy and autism in hundreds of children.

“SCN2A is recognized as one of the most common genetic causes of neurodevelopmental disorders,” said Leah Schust, president of the FamilieSCN2A Foundation. “We are thrilled to fund research that brings us closer to better treatments and ultimately, a cure.”

Awardees were selected through a competitive application process reviewed by The FamilieSCN2A Foundation’s Scientific Advisory Board, comprised of scientists and clinicians with a wide array of backgrounds and expertise in all areas relevant to SCN2A research.

Recipients of the 2019 Action Potential Research Grants and their areas of investigation are:

• Caitlin M. Hudac, Ph.D., University of Washington, Department of Psychiatry and Behavioral Sciences Center on Human Development and Disability, who will investigate: SCN2A Neural Biomarkers of Attention. The aim of this project is to link a promising electroencephalography (EEG) based candidate biomarker to clinical behaviors of children with disruptive SCN2A mutations.

• Sunita N. Misra, MD, Ph.D., Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children’s Hospital of Chicago, who will investigate: Downstream Effects of SCN2A-Related Epilepsy. The aims of this project are to identify subtle ictal epileptiform signatures of SCN2A-related epilepsy and elucidate the role of secondary neurotransmitter deficiencies in SCN2A-related epilepsy.

The FamilieSCN2A Foundation has worked aggressively to raise awareness and research funds and to foster collaboration among scientists globally. Although $100,000 is a small amount in a world where gene therapy investment is in the millions, this grassroots effort represents the heart of The FamilieSCN2A Foundation mission to find a cure for their kids. Providing seed funding for quality research projects creates the potential to propel that research toward future investment by industry and government.

“We attribute our ability to fund this grant to our community-driven efforts to improve the lives of all those affected by SCN2A,” Schust said.

The FamilieSCN2A Foundation has seen the affected patient community grow from a known handful to more than 500 in three short years. “The ultimate cure will likely be some form of personalized medicine,” Schust said. “Our Action Potential Grants, along with other major research initiatives going on in the scientific community, are critical to finding cures. Close collaboration between researchers and the patient community is driving these efforts.”

The Foundation has previously co-funded smaller grants with the Autism Science Foundation to investigate the function of SCN2A variants in autism and with the KCNQ2 community (the Jack Pribaz Foundation and KCNQ2 Cure Alliance) for the ERGENT study for early identification of genetic causes of epilepsy in neonates. In addition, the Foundation partners with Simons Searchlight to maintain a registry of patient data that is accessible to the broader research community.

The name ‘Action Potential’ comes from the nature of the SCN2A gene, which encodes a neuronal voltage-gated sodium channel involved in the initiation and propagation of action potentials in neurons.

About The FamilieSCN2A Foundation

The FamilieSCN2A Foundation is a three-year-old organization created by parents of children diagnosed with epilepsy and autism as a result of a change in the SCN2A gene. Its vision is to find effective treatments and a cure for SCN2A disorders. The foundation is a registered 501(c)(3) organization run entirely by parent volunteers.

To learn more about SCN2A and the FamilieSCN2A Foundation visit:

Media Contact: Leah Schust
Phone: (301) 252-8070

Source : The FamilieSCN2A Foundation, Inc Follow on Google News
CATEGORIES : Medical Research


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