Helping families find the critical information and support they need
December 11, 2019
Report from Rare Disease Week in D.C.
March 2, 2017
2019 - The Year in Review
December 31, 2019
Small Family Foundation Partners with University of Michigan to Develop SCN8A Mouse Models of Most Severe Mutations
June 12, 2017
Mutations of sodium channel SCN8A, resulting in an epileptic encephalopathy, generate a very wide spectrum of impacts on affected children. Some children experience more mild and manageable affects – with the children walking, talking, and continuing to progress developmentally. Others are profoundly affected and have no seizure control, often severe low muscle tone, and suffer from a wide variety of comorbidities – often with catastrophic consequences.
Historically, the first and only available model of SCN8A was developed at the University of Michigan. Despite the awareness that the mutation in these mice had the more moderate form of mutations, researchers have to date not been successful in developing a usable mouse model with more extreme and severe forms of SCN8A mutations. Simply put, the mice bred with the severe strains died consistently before any research could be done!
Working to fill this significant impediment to SCN8A research reflecting the true range of the disease, researchers at the University of Michigan have begun developing a new mouse model in which a patient mutation of SCN8A can be activated in specific types of neurons at specific points in development, in order to localize the key targets of pathogenesis. This will allow researchers to turn ON an SCN8A patient mutation to test the effects of turning it on in excitatory versus inhibitory neurons, and before and after neuronal development. Notably, this will also provide a second model for drug testing; this one of a more severe form of an SCN8A mutation.
Wishes for Elliott: Advancing SCN8A Research is a small family-based foundation inspired by four year old Elliott – who struggles daily with profoundly debilitating effects of his de novo SCN8A mutation. His seizures have never been under control, he has never sat, rolled, or grasped, his vision is severely impaired, he suffers from frequent GI spasms and pain requiring constant support, he is tube dependent, and requires constant respiratory support to compensate for his weak and vulnerable lungs. He is so medically fragile that he has been in a hospice program for much of his short life– with no treatments or applicable lessons coming from much of the ongoing SCN8A research!
Wishes for Elliott is excited and honored to be partnering with the University of Michigan to complete this important new work to develop a mouse model reflecting a more severe form of the SCN8A mutation like Elliott’s. The new grant by Wishes for Elliott will provide a critical six months of funding to allow postdoctoral fellow Rosie Bunton-Stasyshyn, Ph. D. to continue this important work. This grant will allow Dr. Bunton-Stasyshyn 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.
The University of Michigan Human Genetics team, directed by SCN8A pioneer Dr. Miriam Meisler, stated: “It is difficult to overstate the value of this contribution, which comes at a critical point in our research. We are very grateful for the continuing work by Wishes for Elliott to advance understanding of the mechanisms of sodium channel encephalopathy and to find interventions that will mitigate the terrible consequences of this devastating disorder.”
For more information contact:
Dr. Rosie Bunton-Stasyshyn and Dr. Miriam Meisler at the Department of Human Genetics, University of Michigan 48109-5618.