SCN8A Research Consortium

The International SCN8A Alliance has been working since 2014 to advance research and new treatments for SCN8A. We developed this SCN8A Research Consortium as an evolution of our biannual scientific meetings to ensure more regular and continuous opportunities for collaboration and sharing. These quarterly joint lab meetings allow researchers a safe space to share their current work and challenges, get feedback from colleagues and develop collaboration/partnerships that may expedite finding answers for our children.

Beyond this safe space to share new ideas and discoveries, we also work to continue breaking down silos between researchers and SCN8A families.

For example, researchers who were working on a mouse model for a specific mutation, R850Q, joined a family meeting and spoke with caregivers about how their children with that specific mutation presented. This lead to researchers learning more about this distinct phenotype and taking ideas back to the lab about what to observe and study in mice and focused in on what matters most to families.

The Alliance was formed by two foundations and combines the well known symbols of our commitment to the community:

The neuron, reflecting
RESEARCH

&

The symbol of our REGISTRY

to reflect our vision of global collaboration to improve care and treatments for SCN8A

Dr. Hammer first identified the gene as pathogenic in humans just a decade ago posthumously in his daughter Shay. Already a trained genetic researcher, he pivoted his career to focus his efforts, energy, and passions to establishing an international and comprehensive dedicated SCN8A Registry, now launching its 6^th annual drive.[1]

[1] The now almost 7-year-old International SCN8A Registry, providing comprehensive longitudinal data on over 200 SCN8A individuals from all over the globe, will continue to operate as scn8a.net and under the non-profit home of the SEHRF.

Gabi Conecker formed Wishes for Elliott from an ICU waiting room – committing to advancing research, collaboration and new treatments for all children with SCN8A. For 7 years Wishes for Elliott has convened scientific meetings, supported grants to eight early investigators in collaboration with the American Epilepsy Society, and helped form regional and variant communities to engage families in both staying abreast of emerging research and driving it in directions to accelerate translation into improved treatments and outcomes.

While Wishes for Elliott and Dr. Hammer have been collaborating for 7 years now – they have decided to join forces to better serve families – sharing the frequently emerging new insights and lessons of the robust longitudinal registry, and collaborating with researchers, clinicians, and industry partners to continue accelerating progress.

The International SCN8A Alliance offers an umbrella organization to facilitate coordination and reduce duplication so as not to delay progress toward a cure.

The 8AAlliance will focus on expanding effective alliances between families, clinicians, researchers, and pharmaceutical companies.

This new umbrella organization will be an independent nonprofit foundation, opening up participation in and updates on the many combined efforts of Wishes for Elliott and the Shay Emma Hammer Research Foundation/Dr. Hammer to support and give back to SCN8A families.

In addition to structured partnerships, the 8AAlliance will work towards enhanced communication, coordination, and collaboration with all family and professional organizations who share a commitment to advancing research and treatments for SCN8A epilepsy and related disorders.

Become an organizational Alliance Partner

The new foundation will continue to host the collaborative Developmental and Epileptic Encephalopathy Project (DEE-P Connections) which focuses on providing coordinated education, empowerment, and community for families with children severely affected by DEEs, including SCN8A.

The new foundation with Wishes for Elliott will continue to host the collaborative Developmental and Epileptic Encephalopathy Project (DEE-P Connections) which focuses on providing coordinated education, empowerment, and community for families with children severely affected by DEEs, including SCN8A.