State your name and any affiliations with genetic communities or patient advocacy groups.

My name is Rebeca Ridings Figueroa, and I am the Research Program & Charity Manager at Cure CLCN4, a non-profit dedicated to furthering scientific research on CLCN4-related neurodevelopmental condition.

What inspired you to take a leadership role with Cure CLCN4? 

After completing my Ph.D., I found myself at a crossroads, feeling somewhat burnt out and questioning my path forward in academia. Joining Cure CLCN4 was a serendipitous opportunity that provided me with the chance to apply my expertise in genetics and cell biology in a far more impactful manner. It offered me a platform to direct my energy and knowledge towards a cause that felt profoundly meaningful — advancing research on the CLCN4-related condition and offering support to families navigating this journey.

How do you integrate your background in genetics and cell biology, as well as your experience with policy and governance, to drive advancements in Cure CLCN4’s research initiatives?

My background in genetics and cell biology has given me a solid foundation to understand the biological aspects of CLCN4-related condition, and identify gaps in existing research. During my time at Cure CLCN4, the experience I have acquired in policy and governance has been key in helping me navigate the challenges of research funding, advocacy, and creating partnerships with other organizations. Overall, I think this blend of skills has helped us spearhead projects that have been essential to our mission.

In your experience, how has being part of a patient advocacy community like Cure CLCN4 positively impacted your own career in rare disease?

Being a part of Cure CLCN4, and the broader patient advocacy community, has been incredibly enriching, both professionally and personally. It has broadened my network and introduced me to diverse perspectives, highlighting the critical role of patient-centered research. In addition, my role has expanded my skill set beyond genetics, teaching me the ins and outs of event organization, fundraising, managing communications and social media, and overseeing research grants. This experience has essentially provided me with a crash course in operating a rare disease non-profit, giving me lessons and capabilities that extend well beyond my scientific training.

Can you share a memorable moment or achievement from your time with Cure CLCN4 that you’re particularly proud of, and why it’s significant to you?

One of the highlights of my time with Cure CLCN4 was our first scientific conference, which marked the first occasion the scientific community gathered specifically to discuss CLCN4-related condition. Though it was a modest-sized group, the energy and enthusiasm in the room were unmistakable. What made it especially rewarding was witnessing the excitement of Peter and Gina, parents to Daphne, who has CLCN4-related condition, and the founders of Cure CLCN4. Their excitement, along with that of researchers in the field and other families who were following online, truly encapsulated the significance of our work. It was a vivid reminder of the impact of bringing researchers, families, and advocates together to share knowledge and hope.

When organizing patient advocacy and research conferences, what have you learned through this process?

Putting together our conferences has taught me a lot about teamwork. Everyone’s contribution is crucial — from the team at Cure CLCN4 to the engaging speakers, enthusiastic attendees, and generous sponsors — all play a key part in making these events successful. The key takeaway for me has been seeing the impact of bringing everyone into the same space. These interactions not only foster a vibrant exchange of ideas, but also help create collaborations that might not have been sparked otherwise. This synergy, the coming together of various stakeholders, has been instrumental in moving our mission forward, demonstrating the remarkable outcomes that can arise from unity and shared purpose.

Could you provide some insights into the challenges you’ve encountered while advocating for individuals with a CLCN4-genetic variant? How have you overcome them, and what lessons have you learned along the way?

One significant challenge we’ve faced in advocating for individuals with a CLCN4-genetic variant is the limited number of researchers and doctors specializing in this condition, a common issue among rare diseases. To address this, we’ve been proactive in broadening our network, although it’s an ongoing effort. One strategy that has shown promise is reaching out to professionals in related fields, which introduces an interdisciplinary approach to our work. This approach diversifies our pool of expertise and enriches our research and advocacy efforts with fresh perspectives and methodologies.

What resources or support networks have you found most helpful in your role as a member of a patient advocacy community?

In my role, the most important support network has been the people directly involved with our charity, from our founders and trustees to the members of our scientific advisory board. Their dedication, expertise, and insight have been absolutely essential in steering our initiatives and propelling us forward. For those considering starting a patient advocacy group, I would like to say: the core strength of your organization lies in its people. It’s crucial to build a team of individuals who are not just willing but eager to invest their time, energy, and expertise. I believe that surrounding yourself with committed, knowledgeable, and passionate people is the foundation of any successful advocacy effort.

What do you find valuable in your role as a Simons Searchlight Community Advisory Committee member?

Simons Searchlight has been of huge help to Cure CLCN4, establishing the first and only registry for people with CLCN4-related condition. This has been an indispensable asset to our community. Serving on the Simons Searchlight Community Advisory Committee offers me a meaningful way to give back to an organization that has significantly fueled our advancements. It’s a privilege to leverage my experience with Cure CLCN4 to support Simons Searchlight’s mission, fostering connections and exchanging knowledge with other rare disease organizations.

Is there anything else you would like to share with our community?

I want to extend my heartfelt gratitude to the entire Cure CLCN4 community, whose commitment and support have been the backbone of our progress. First, to our founders, Peter and Gina, whose determination to make a difference for families facing a diagnosis of CLCN4-related condition sparked this incredible journey. Our trustees and scientific advisory board have also been essential, guiding us with their expertise and insight. In addition, the countless individuals who’ve supported us along the way — whether through donations, advice, attending events, and more — have been key. Cure CLCN4 was founded on a vision that one day doctors will be able to offer newly diagnosed families not just a diagnosis, but hope — hope for their child’s future and for the family as a whole. This vision is the cornerstone of everything we do at Cure CLCN4, and I firmly believe that together, we can make it a reality.