Reflections from a ‘RAD’ Workshop
By Kelly Muzyczka, Program Manager with the SCN8A Alliance

I recently had the opportunity to join 25 other patient advocacy groups, in my role with the International SCN8A Alliance at the Rare Advocacy Development (RAD) Workshop—a two-and-a-half-day deep dive into the world of rare disease advocacy, with a special focus on central nervous system (CNS) disorders. The agenda covered everything from caregiver experiences and intellectual property rights to biomarkers and natural history studies. Throughout the event, we heard from venture capitalists, biotech leaders, contract research organizations (CROs), clinicians, researchers, and fellow advocates—all working toward the same goal: accelerating progress for rare disease communities.
As someone with a background in medical anthropology and social science research, I found the foundational science sessions particularly valuable. The deep dive into CNS function, brain anatomy, neurochemistry, and the fundamentals of drug development helped connect the dots between advocacy and the scientific advancements shaping the future of rare disease treatments. It was a privilege to learn directly from experts like Dr. Eric Marsh (Children’s Hospital of Philadelphia) and Dr. Emma James (Encoded Therapeutics), who are tackling some of the biggest challenges in CNS and seizure disorders.
The workshop also highlighted essential resources for rare disease nonprofits. We learned about the Jackson Laboratory (JAX) and how their innovative mouse models and independent research help remove barriers to drug development. GeneDX shared up-to-date diagnostic statistics for various rare diseases, providing critical insights for advocacy groups supporting newly diagnosed and undiagnosed families.

One of the most striking aspects of this space is how many of us wear multiple hats. Parents become scientists, lawyers become rare disease advocates, and industry leaders start companies to drive change. We heard from inspiring figures like Allyson Berent, a rare mom who leveraged her veterinary expertise to spearhead groundbreaking Angelman Syndrome therapeutics. Dr. Bruce Leuchter shared his unique journey bridging medicine and finance, ultimately leading him to found Neurvati, where he now serves as CEO and President.
Yet, beyond the invaluable knowledge and strategies shared, my biggest takeaway from the RAD Workshop was the power of connection. While the disorders represented varied widely, the commonalities between our challenges, triumphs, and goals far outweighed the differences. Connecting with leaders from the ASXL Rare Research Endowment Foundation, the TESS Research Foundation, the CACNA1A Foundation, CureSHANK, and many others reinforced the strength of our collective efforts. Together, we’re not just advocating—we’re building a community rooted in shared resources, empathy, and the drive to make a difference. I will carry the lessons learned and connections made with me as we face the work ahead of us in our first year as a CZI Rare as One grantee, and while we’re building our SCN8A roadmap, working to bring better treatments and quality of life to all with SCN8A.
