Reflections from the Rare As One Meeting: A Joint Message from Our Executive and Scientific Directors

We recently returned from an invigorating three-day convening of the Chan Zuckerberg Initiative’s Rare As One (RAO) Network in the Nevada desert. This gathering brought together foundation leaders, scientists, and strategic partners who all share a mission to accelerate cures and improve the lives of people living with rare diseases.

As the Executive and Scientific Directors of the KCNQ2 Cure Alliance, we attended the event eager to listen, exchange ideas, and identify genuine opportunities for collaboration, all with the goal of advancing toward more effective treatments for our KCNQ2 community.

Building a Network Across Channelopathies and Aligning on Shared Infrastructure

A highlight of the meeting was the opportunity to deepen our collaborations with other channelopathy-focused foundations, especially those interested in potassium channel genes. We engaged in meaningful exchanges with leaders from the KCNH1, KCNT1, and KCNA1 foundations, among others. These conversations emphasized our shared challenges and opportunities in tackling epilepsy and neurodevelopmental disorders at the molecular level.

Together, we are considering how to develop clinical centers of excellence, create tools that measure the meaningful benefits of new medicines, and drive patient-focused research and drug development. Each of these offers an opportunity for KCNQ2 Cure to contribute to and benefit from these collaborative infrastructure efforts.

Learning from Bold Science, Inspired by Baby K

We were profoundly moved by a presentation from one of the CHOP scientists involved in administering the first personalized CRISPR gene-editing therapy to an infant, widely known as Baby KJ. His incredible story serves as an inspiring proof-of-concept that precision medicine in rare diseases is not only possible, but happening now.

Moments like these reinvigorated our belief that with the right partnerships, resources, and urgency, we too can work towards similar breakthroughs for people living with KCNQ2-related disorders.

Embracing Challenges, Elevating Strategy

Amid the inspiring conversations, we also discussed the challenges we all share. Across the board, patient-led foundations like ours are grappling with funding limitations and resource constraints. These realities force all of us to be more strategic, refining our priorities, identifying what we alone are uniquely positioned to do, and partnering where others excel. This is why collaborations, such as those with other potassium channel-focused foundations, are not only inspiring but also essential. 

We left with concrete next steps that range from co-developing educational content to coordinating research strategies around clinical endpoints, biomarkers, and functional readouts.

Looking Ahead with Community in Mind

As we bring the RAO spirit home to KCNQ2 Cure, we’re energized by the collective momentum. We're implementing new ideas for community input, exploring shared research frameworks, and embracing radical collaboration with both scientific and patient communities.

In the coming weeks and months, we’ll be reaching out to learn more about what you, our community members, see as the most pressing needs we must tackle together.

With unity, science, and heart,

Scotty & Brooke