15 Years of Simons Searchlight: Celebrating Families, Research, and Progress

Simons Searchlight originally launched as Simons VIP Connect in 2010 and was created with funding and support from the Simons Foundation through the Simons Foundation Autism Research Initiative (SFARI).

The project began with 16p11.2 deletion and duplication families from the USA, Canada, and Australia, in collaboration with five medical centers and about 200 families. These early partnerships laid the groundwork for the global community that thrives today.

The first 16p family conference, held in Gatlinburg, Tennessee in July 2011, brought caregivers, parents, and scientists together for the first time, embodying our core mission to unite families and researchers for lasting impact.

From the start, Simons Searchlight made the commitment to document meetings with families and researchers. Watch the recordings.

By 2014, the study shifted from in-person clinic visits to an online study, making participation easier and more accessible worldwide.

Whereas in-person visits enabled additional testing (EEG, MRI), going online welcomed thousands more families and paved the way to add new genetic conditions, expanding research beyond one specific genetic change like the 16p11.2 deletion to better reflect the wide range of autism and related neurodevelopmental disorders.

Today, Simons Searchlight spans nearly 100 countries and 185 genetic conditions, with families contributing in seven languages. Registration grew from 239 participants in 2014 to over 1,500 by 2020 and now exceeds 9,000, reflecting a rapidly expanding, truly international community that makes this breadth of research possible.

Together with families and patient advocacy groups, Simons Searchlight has built one of the most comprehensive rare genetic neurodevelopmental research resources in the world. To date, participants have completed more than 88,000 surveys and contributed 3,777 blood samples.

These data drive discoveries about developmental milestones, guide future research, and help speed the development of new therapies. 

These contributions ensure that researchers have access to rich, long-term data that deepens our understanding of rare genetic neurodevelopmental conditions and speeds the progress of research.

In spring 2019, Simons VIP Connect became Simons Searchlight, a name inspired by the beacon of light that families provide in guiding research. Today, it is one of the largest international registries of more than 185 rare genetic neurodevelopmental conditions, with families contributing in seven supported languages — English, Spanish, French, Dutch, German, Italian, and Portuguese. 

If you or your family member have a genetic diagnosis that is on our list, we invite you to join our research community and share your rare disease story.

In 2020, Simons Searchlight launched the Community Advisory Committee (CAC), giving families, scientists, and advocacy leaders a direct voice in shaping the program. Their insights help to ensure that materials, outreach, and resources remain relevant and meaningful.

Simons Searchlight partners with 60+ Patient Advocacy Groups (PAGs) worldwide. Together, we’ve launched Shine Your Searchlight, a campaign engaging hundreds of new families; created the ‘Leading the Way’ interview series with 15 PAG leaders since 2023; built interactive participation dashboards; and released new outreach and engagement toolkits.

The team has also joined 170 PAG conferences to date — in person and virtually — to connect with families and researchers, share data, and grow community partnerships. 

To date, more than 200 researchers worldwide have requested access to Simons Searchlight data and biospecimens through SFARI Base to help advance knowledge in rare genetic neurodevelopmental disorders. All research follows IRB-approved protocols, ensuring families’ privacy while transforming their contributions into meaningful scientific progress.

In 2020, SFARI, in collaboration with the Nancy Lurie Marks Family Foundation, launched an initiative to create induced pluripotent stem cells (iPSCs) from Simons Searchlight participants. With generous blood donations from families across more than 20 gene groups, the project is generating 300 iPSC lines — 200 from participants with a genetic variant and 100 from their family members as controls.

All participant samples have been selected to create iPSCs, and many iPSC lines are already available to researchers through SFARI Base. This family-powered resource continues to drive discovery in rare genetic neurodevelopmental disorders.

Researchers have published more than 130 papers and preprints using Simons Searchlight participant survey and biospecimen data. Each publication represents a step forward in understanding rare genetic conditions, fueled by the information that families have shared.

Launched in 2020, the Simons Searchlight Research Match program connects families directly with additional studies and scientists. To date, more than 3,200 families have been invited, and 1,760 have joined new projects. All the data generated from Research Match are returned to the Simons Searchlight database, strengthening the registry with no extra burden on families.

Beyond Research Match, Simons Searchlight promotes about 10 external studies annually through Facebook and newsletters. These collaborations have helped researchers to recruit participants more effectively.

Simons Searchlight helps families, doctors, and researchers to better understand rare genetic neurodevelopmental disorders. We create plain-language resources and gene guides that make complex science accessible. Each condition page includes trusted references like ClinVar and GeneReviews, offering reliable information about conditions, such as epilepsy, intellectual disability, autism, and ADHD. We also share back what we learn through quarterly data snapshots and community presentations, keeping families informed and connected to research progress.

Our team of certified genetic counselors plays a key role in this work. They help families interpret genetic results, navigate their diagnosis, and access reliable, up-to-date information. Whether reviewing scientific literature, updating gene webpages, or answering family questions, they ensure that every resource reflects the latest research with clarity and compassion.

Since 2021, we’ve shared over 100 family stories, celebrating the diverse experiences that shape our community. These stories foster connection, elevate family voices, and underscore the real-world importance of why this research matters.

Looking ahead, Simons Searchlight aims to strengthen and expand its impact. Our vision includes identifying more genes, exploring differences within each gene, and applying AI and machine learning to speed up discoveries and potential therapies. Most importantly, we thank our partner families. Your continued participation and longitudinal data make it possible to move research forward and drive progress year after year.

With 15 years of research behind us, your continued partnership will fuel the next wave of scientific advances and life-changing insights, helping to transform the years ahead into an era of new gene advancements, deeper understanding, and faster paths to potential treatments.