Support of High-Impact Research
The International SCN8A Alliance (formerly known as Wishes for Elliott) has awarded grants to early investigators to conduct novel studies to improve the treatment of children with SCN8A since 2015. We developed an innovative, collaborative relationship with the American Epilepsy Society (AES), a leading non-governmental supporter for early-career epilepsy researchers. This new platform for partnership was highlighted as a best practice by the Milken Institute in “A Giving Smarter Guide: Funding Scientific Research.” This partnership has allowed our small organization to leverage AES expertise and infrastructure allowing both organizations to expand the breadth of the research that could be supported by either partner alone. The awardees to date include:
Our 2022 grantee is working in the lab of Dr. Heather Mefford at St. Jude Children’s Research Hospital, Inc. This project is focused on investigating specific modifications to the DNA, known as methylation, in patients with unsolved DEE to determine if they harbor disease-causing DNA methylation changes that disregulate certain genes and cause DEE.
In 2021, we chose to support a project that aimed to better understand probes the mechanisms by which variants cause varying severity of disease, which may help inform the discovery of targeted therapies. Tim is a graduate student at Baylor College of Medicine working under the guidance of Dr. Ed Cooper.
Letonia Copeland-Hardin, BS
Our 2020 grantee—is a Graduate Student at Northwestern University is researching the Characterization of gene modifiers in a mouse model of epilepsy in the lab of Dr. Jennifer Kearney.
Ranmal Samarasinghe, MD, Ph.D.
Of UCLA, our 2019 grantee, who studied – Leveraging Human Brain Organoids for Therapeutics in Epilepsy under the mentorship of Dr. Bennett Novitch. He now has his own lab where he continues this line of work, in part, with a 2020 CURE Epilepsy grant.
Chad Frasier, Ph.D.
Of the University of Michigan, our 2018 grantee, who through a postdoctoral fellowship, studied Novel Mechanisms of SUDEP under the mentorship of Jack Parent M.D. Chad is now an Assistant Professor in the Department of Biomedical Sciences Quillen College of Medicine at East Tennessee State University where he continues to research sodium channels and SUDEP.
Mariya Chavarha, Ph.D.
Of Stanford University, our 2017 grantee, who through a predoctoral fellowship is studying Voltage imagine for rapid characterization of SCN8A mutant neuronal phenotypes. In 2019, Mariya joined Google, building custom molecular biology and biochemistry tools.
Jacy Wagnon, Ph.D.
The University of Michigan, our 2018 grantee, researching the role of microRNA-mediated regulation of gene expression in epilepsy. Jacy is now an Assistant Professor in the Department of Neuroscience at the Ohio State University College of Medicine where her lab continues to work in SCN8A, in particular, investigating seizure pathology working to better understand the relationship between seizures and cognitive, motor, and behavioral comorbidities.
Rosie Bunton-Stasyshyn, Ph.D.
Wishes for Elliott has also partnered with the University of Michigan in 2016 to provide critical bridging support for the work of Rosie Bunton-Stasyshyn, Ph.D. at the University of Michigan. This time-sensitive funding, critical between funding mechanisms, supported seminal efforts to help assure mouse models used for drug testing and other SCN8A research reflect the more severe strain of mutations. Our funding allowed the work to securely establish the new mouse line and generate data for a now pending publication about this important new research tool. In 2018, Rosie joined the International Mouse Phenotyping Consortium (IMPC) which is a global project to determine the function of every protein-coding gene in the mouse genome.
Andrew Tidball, Ph.D.
Of the University of Michigan, a 2015 grantee, who studied Mechanisms and Drug Discovery in SCN8A Patient iPSC-Derived Neurons under the mentorship of Jack Parent, M.D., and Lori Isom, Ph.D. As of late 2020, Andrew is still studying SCN8A and just published a compelling new paper in Brain on potential SCN8A treatments.
Christopher Makinson, Ph.D.
Of Stanford University, our 2015 grantee, who studied 3D Human Culture Platform to Test SCN8A Epilepsy Mechanisms and Therapies under the mentorship of John Huguenard, Ph.D., and Sergiu Pasca, M.D. In June 2020, Christopher joined Columbia University’s Institute for Genomic Medicine where he searches for novel personal/precision medicine with the goal of improving our understanding of the genetic underpinnings of neurological diseases, with an emphasis on SCN8A.
Guy Helman MD, Ph.D.
Guy was Wishes for Elliott’s first grantee in 2014 and played a pivotal role in working with Dr. Adeline Vanderver to organize, convene, structure, and develop the first SCN8A consensus document on the state of understanding of SCN8A. The synthesis paper was published as a cover article in Epilepsia. Guy went on to the University of Melbourne to pursue both an MD and a Ph.D. and hopes to specialize in critical care, with a focus on pediatric genetic disorders.
Dr. Michael Hammer, Ph.D.
Of the University of Arizona, in 2016 Wishes for Elliott, in conjunction with The Cute Syndrome Foundation and SCN8A-Help Adeline Find Answers, provided a grant to Dr. Hammer to support family participation in and the development of the SCN8A Registry and Database. The three organizations partnered to dedicate all contributions raised in conjunction with the first International SCN8A Awareness Day in 20016. The grant recognized the consensus of the participating organization on the importance of systematic this innovative and comprehensive collection of patient histories for progress in research, treatment and drug development for SCN8A.