Celebrating 15 Years of Simons Searchlight: A Journey of Progress and Hope

Their child had a 16p11.2 deletion, and they came to my clinic searching for answers. They shared the daily challenges they faced, uncertainties about what the future might hold, and their dream of helping not just their child, but others navigating the same journey. Their resilience and hope embodied what Simons Searchlight is all about –– partnering with families to promote research that helps us understand what the future will hold and how to make it better and that uncovers insights into how genes affect the brain, thus creating a brighter future for those with rare genetic conditions.

When Simons Searchlight (originally Simons VIP Connect) was founded in 2010, our focus was on families like theirs, those affected by 16p11.2 deletion and duplication syndromes. With support from the Simons Foundation, we began collecting information and samples to help researchers to better understand these conditions. What started with one community has grown into a global effort to empower nearly 200 genetic communities.

Reflecting on Our Progress

The heart of our success lies in your dedication and continued participation. Since moving fully online in 2014, our community has expanded from 239 participants with genetic variants to nearly 7,500 today. Participants speak many languages and represent diverse backgrounds. Together, you’ve completed over 75,000 surveys and donated 1,200 blood samples, which have helped researchers to study genetic conditions and develop new tools to improve care.

These efforts have made a real impact:

• Over 105 scientific publications based on participant-reported data have shaped clinical care and advanced rare disease research.
• Participant-reported data has informed clinical care guidelines and contributed to GeneReviews, helping you and your doctors to correctly manage genetic conditions and provide justification for necessary care to insurance companies and schools.
• Thousands of families have participated in additional research opportunities through Research Match, extending your impact beyond the core Simons Searchlight study.

But these aren’t just numbers. They are stories of progress and possibility. They are the steps forward for families like the one I met 15 years ago, who now see their journey reflected in scientific discoveries and improved resources.

Now I see patients diagnosed earlier (sometimes right after birth) and later (sometimes into their 60’s and 70’s). I now have better guidance and better tools to support people compared to 15 years ago. We have better teaching strategies, better assisted communication technologies, better ways to help young people be more independent yet still supervised, and better knowledge about what might be in store so that we can prepare, and in some cases, prevent. We don’t yet have all the answers or all the solutions, but we’re making real progress.

Looking Ahead: “15 Years of Progress: Together for Tomorrow”

As we celebrate this milestone, we also look to the future. The theme of our anniversary highlights not just how far we’ve come, but the work still ahead. Your participation — every survey, every sample, every shared story — makes breakthroughs possible.

In 2025, we’ll expand our reach with new surveys, tools, and resources designed to connect families and foster collaboration worldwide. Importantly, the additional information we collect will strategically position your condition for future advances in treatment and the studies that will test the effectiveness of those treatments (clinical trials). Research funding is scarce for rare diseases, and we are helping to catalyze it across all 200 conditions that share many similarities.

A Heartfelt Thank-You

To every family, researcher, and advocate who has joined us along the way: thank you. Your contributions have fueled discoveries that improve lives, informed better care, and laid a foundation for what’s next. Together, we’re not just advancing research, we’re creating a future full of hope for all rare genetic communities.

Here’s to 15 years of progress and the many breakthroughs to come.

With gratitude,

Wendy Chung, MD, PhD
Simons Searchlight Principal Investigator