What have we accomplished so far?
The core mission of Wishes for Elliott is to accelerate the scientific understanding of the SCN8A gene to bring hope, answers and better treatments for children so devastated by this disorder. From the moment in 2014 when we learned of Elliott’s SCN8A mutation – and the limited answers that so-called “diagnosis” provided – we were driven to do whatever we could to advance the pace of scientific research of this rare and poorly understood disorder. No child – and no family with a child struggling with the devastation from the disorder, should no real treatment or help for our children.
While painfully little is known about SCN8A mutations, we do know its impact on many of the children affected is devastating – including debilitating seizures, very limited motor skills, non-verbal, feeding tube dependent, pulmonary problems, and cortical blindness. Sadly, Elliott suffers from all these symptoms – and more.
Accelerating the pace of cutting-edge research is essential to improving the understanding of mutations of the sodium channel, SCN8A gene. Such research offers the only hope for Elliott – and many others like him – for identifying approaches to mitigate, treat, and eventually prevent this devastating disorder.
Wishes for Elliott has no staff besides Elliott’s family – all who are active in his intensive care. Despite this, we have committed time and resources to accelerate the pace of scientific understanding of SCN8A and have already contributed to the advancement in understanding of SCN8A far beyond our age, size, or resources. Our efforts have concentrated on three main areas:
Convening expert conferences
Building partnerships in the broad rare epilepsy community
ADVANCING SCN8A EPILEPSY RESEARCH
Active Partnerships for Advancing SCN8A Research, ongoing
We have built successful partnerships to coordinate with other leading organizations and represent and advocate for continued SCN8A research. We serve on the Steering Committee of the Epilepsy Foundation’s Rare Epilepsy Network, the Epilepsy Leadership Council of the American Epilepsy Society, and the Coalition of Rare Epilepsies of the Citizens United for Research in Epilepsy (CURE). We are also exploring other new partnerships to help further our ambitious goals.
Thank you for your interest in our efforts to advance SCN8A research.
We welcome input, suggestions, and opportunities for partnerships. In addition to the need to financial support, we welcome multiple forms of support for the urgent and promising work we are advancing. Check out the Donate/Help tab for more information or write us directly with your comments or suggestions at WishesforElliott@gmail.com.
To date, six grants have been awarded to young researchers to conduct novel studies to improve the treatment of children with SCN8A. Wishes for Elliott had to think “outside the box” for a strategy to develop a competitive, peer-reviewed process for identifying promising research opportunities. We were honored to develop 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 Institue 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:
Radnal Samarasinghe, Ph.D., of UCLA, whose project - Leveraging Human Brain Organoids for Therapeutics in Epilepsy - is currently working under the mentorship of Dr. Bennett Novitch, to:
1. Characterize network activity in Rett and SCN8A cortical-subcortical fusion organoids, and
2. Develop an MEA based drug screening tool using Rett and SCN8A fusion brain organoids
Andrew Tidball, Ph.D., of the University of Michigan, 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.
Christopher Makinson, Ph.D., of Stanford University, 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.
Chad Frasier, Ph.D., of University of Michigan, who through a postdoctoral fellowship is studying Novel Mechanisms of SUDEP under the mentorship of Jack Parent M.D.
Mariya Chavarha, Ph.D., of Stanford University, who through a predoctoral fellowship is studying Voltage imagine for rapid charachteriztion of SCN8A mutant neuronal phenotypes.
Jacy Wagnon, PhD, University of Michigan, researching the role of microRNA-mediated regulation of gene expression in epilepsy.
Wishes for Elliott has also partnered with the University of Michigan 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.
Joint Grant to Support Families Participation in and development of SCN8A Registry
A grant to support family participation in and the development of SCN8A Registry and Database has been made to Dr. Michael Hammer at the University of Arizona. This grant was achieved through a collaborative fundraising effort with two other family-based organizations focusing on SCN8A - The Cute Syndrome Foundation and SCN8A-Help Adeline Find Answers. Recognizing the importance of systematic clinical data and patient histories as well as the absence of any resources generally available to support such efforts, our group provided a $20,000 grant to support the vital but underfunded SCN8A registry effort of Dr. Hammer.
We have built successful partnerships to coordinate with other leading organizations and represent and advocate for continued SCN8A research. We serve on the Steering Committee of the Epilepsy Foundation’s Rare Epilepsy Network, the Epilepsy Leadership Council of the American Epilepsy Society, and the Coalition of Rare Epilepsies of the Citizens United for Research in Epilepsy (CURE). We have partnered with the leading Dravet and SCN2A foundations to bring researchers together to accelerate research progress.
Major current efforts include participation in several working groups for initiatives cutting across rare epilepsies. One effort is focusing on development independent public information or certification on the qualifications and performance of centers providing care for rare epilepsies. Another collaborative effort we are participating in is focusing on scientific and patient consensus on benchmarks for assessing the funding and outcomes of epilepsy research.
CONVENING EXPERT CONFERENCES
Convening and Hosting of First ever SCN8A Scientific Conferences
As our first major initiative, Wishes for Elliott convened - for the very first time - SCN8A researchers and clinicians from across the globe. This effort began a real dialogue among key researchers, several seminal publications and increased coordination among researchers on the largely intractable challenges our children are facing.
Wishes for Elliott then sponsored a second meeting of SCN8A experts - both clinicians and researchers - in conjunction with the American Epilepsy Society meeting in Houston in December 2016. This built on the new shared understanding and partnerships forged during the first meeting. The conference was highly effective in supporting expanded communication and coordination among the varied experts and itself played a role in advancing the scientific understanding of SCN8A. Two promising initiatives were identified which became Wishes for Elliott agenda over the next two years: convening an Open Clinic to help develop critical clinical data on a wide range of children with SCN8A mutations and convene a meeting of scientists cutting across the sodium channelopathies ot explore potential synergies and possible new research directions.
Hosting of 1st Scientific Workshop Cutting Across Sodium Channelopathies
In partnership with leaders of the Dravet Syndrome (SCN1A) Foundation and FamilieSCN2A we brought leading scientists together to accelerate progress toward treatment of the devastating sodium channelopathies. The invitation-only meeting provided a unique opportunity for accomplished, senior researchers in various channelopathies to focus on key scientific questions, encouraging investigators to think outside of their own areas of expertise and brainstorm ways to accelerate the pace of answers and better treatments for the thousands of children affected by these devastating disorders.
Support for powerful Partners Against Mortality in Epilepsy conference
Wishes for Elliott was pleased to partner and support the Partners Against Mortality in Epilepsy conference in May 2018. This powerful coalition has had significant impacts helping to provide research and collaboration to reduce the tragically high mortality rate in many of the rare epilepsies.
DIRECTLY SPONSORING HIGH PRIORITY RESEARCH
PUBLICATIONS ASSOCIATED WITH WISHES FOR ELLIOTT-SPONSORED ACTIVITIES
Publication of comprehensive SCN8A chapter in critical Gene Review resource of medical community.
The first comprehensive review of SCN8A - a result of our first scientific meeting held in Washington, D.C. in 2015.
Publication of a Consensus Statement on Current and Future Research - July 2016
One of the numerous outcomes of the first SCN8A expert conference we hosted in 2015 was the publication of a Consensus Statement of all the participants. It was recently published as a cover article in Epilepsia, a highly respected scholarly journal. It represents an important step forward for the small but prestigious group of scientists to outline what they believe collectively is well established about the functioning of the mutations – and notably identifying promising lines of inquiry and collaboration to better understand how the SCN8A mutations function.
Publication of SCN8A On-Line Resource for SCN8A Families – June 2015
Remembering our own isolation when first learning of Elliott’s SCN8A mutation, we expanded the Wishes for Elliott website to include a new “SCN8A Resources” page. The focus of this resource is on helping families connect with a range of ongoing efforts to make personal connections, support vital data collection efforts, and other useful resources.
Publications by Fellows supported with Wishes for Elliott funding:
F. Lopez-Santiago, Luis & Yuan, Yukun & Wagnon, Jacy & M. Hull, Jacob & Frasier, Chad & A. O’Malley, Heather & H. Meisler, Miriam & L. Isom, Lori. (2017). Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy. Proceedings of the National Academy of Sciences. 114. 201616821. 10.1073/pnas.1616821114.
Tidball, Andrew & Parent, Jack. (2015). Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells. STEM CELLS. 34. 10.1002/stem.2203.
Christopher D. Makinson, Karoni Dutt, Frank Lin, Ligia A. Papale, Anupama Shankar, Arthur J. Barela, Robert Liu, Alan L. Goldin, and Andrew Escayg, An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior, Exp Neurol. 2016 January ; 275(0 1): 46–58. doi:10.1016/j.expneurol.2015.09.008.
BUILDING PARTNERSHIPS IN THE BROAD RARE EPILEPSY COMMUNITY