Our Participants

Why should you participate in Simons Searchlight and this research study?

Simons Searchlight studies over 150 genes that cause rare neurodevelopmental disorders, and our list is always expanding. All of these conditions are rare, and right now we all have more questions than answers. In order to improve the lives of people with these rare conditions, we must work together to share information and do research that will help us uncover the answers to important questions.

To join the study, you or your family member must have a genetic diagnosis caused by one of the genes on our list. The study is international, and families can participate in several languages, including English, Dutch, French, and Spanish. More languages are coming soon.

When you participate, your experiences help the medical and scientific communities understand your rare genetic disorder. So, even though your gene or genetic variant is rare, your unique experience is the key to unlocking meaningful scientific advancements.

Your participation may not lead to immediate treatments, but your involvement can lead to important insights for your family and future families. By comparing the experiences that people have with a given condition, we can learn what works and what doesn’t work, and what issues to look out for as people get older. We track health and development over time because things change over the life course. We want to help answer questions about what to expect in the future for people with these rare disorders. We also make it easy to connect you with researchers who want to include you or your child in research studies and clinical trials.

Simons Searchlight’s long-term commitment to research

The Simons Searchlight research study has been well-established for over thirteen years and is supported with long-term funding by the Simons Foundation. The Simons Searchlight team is made up of many talented staff members and is led by two principal investigators: Wendy Chung, M.D., Ph.D., and Cora Taylor, Ph.D.

Chung is a world-renowned doctor and geneticist. She has authored over 600 peer-reviewed scientific articles and 75 scholarly chapters, and she has won several awards as a doctor, researcher, and professor.

Relevant video: Dr. Wendy Chung explains Simons Searchlight

Taylor has many years of experience working with rare neurogenetic communities. She is a licensed psychologist and does diagnostic evaluations on children with a range of developmental conditions and rare genetic conditions. She also does research with a focus on individuals with rare genetic conditions.

Relevant video: Dr. Taylor’s most recent Q&A on Behavioral Interventions for the Simons Searchlight Community

Other team members include doctors, genetic counselors, project managers, developers, research coordinators, and communications specialists. The goal for all team members is to support the Simons Searchlight community. Visit this webpage to learn more about all of our team members.

The value of collecting participant data and sharing information with families

The main focus of Simons Searchlight is to shed light on rare genetic conditions by collecting high-quality information and building strong connections between researchers, families, and patient advocacy partners. The data we collect will help to provide a better understanding for your community, researchers, and doctors of what it means to have your genetic condition.

First, we collect the detailed medical and behavioral histories during your medical history interview and from surveys. The optional blood samples that we collect are also used by researchers to study your condition. We make these data and samples freely available to qualified researchers. Read more about all the data we collect from participants.

Second, we strive to not only collect data but also provide information back to participants. We summarize the information that you provide and share results back with you in multiple ways, such as patient group conference presentations and quarterly reports. We are always looking for new opportunities to provide valuable information back to the community. In addition to the data that we share, we also connect you with medical experts through conferences, webinars, networking, and other community supports.

Relevant article: Simons Searchlight participant breakdown shared as part of our 10-year anniversary

How we share information with researchers

By collecting your information and updates from you over time, we will all learn more about how your genetic condition may change as people get older. Overall, we aim to make it easier for researchers to work on your condition, with a focus on generating knowledge that is useful and of high priority to participants.

This is why one of the core principles guiding all we do is to ensure that de-identified data are shared widely to researchers around the world. We believe that broad access to these data will speed up the pace of research, so we readily share the de-identified data and samples with qualified researchers. We have a portal called SFARI Base that is devoted to sharing resources with the research community. Learn more about SFARI Base and how researchers request participant data.

Relevant videos:

Contact us with any questions

We understand that you may have questions about research participation, and we are here to help. If you have any questions at any point in your research journey, please feel free to reach out to our Simons Searchlight team at coordinator@simonssearchlight.org or by phone at 1-855-329-5638.