(this was originally published in the 2022 Winter Newsletter)

Greetings from the Simons Searchlight clinical data team! In case you don’t know us, we collect important genetic and developmental information from families and then we share what we learn back with you, your community, and researchers. We collect medical histories through phone interviews with our genetic counselors. We also evaluate behaviors and development through scientific surveys that are found on your Simons Searchlight account dashboard. If you are one of the 2,500+ families who have shared your information with us, thank you for taking the time to advance scientific discovery!

We often get asked why completing all of these surveys is important. This is an excellent question! Completing your surveys on a yearly basis is beneficial because they measure developmental changes over time. Researchers can use this valuable information. For some surveys, our team provides group reports and individualized results to help you understand how your child compares to others with their genetic condition. This information can be shared with your own doctors. You’ll even find some of these reports in this newsletter.

We also share your community survey results in scientific papers and conferences to teach the research community about the genetic conditions in Simons Searchlight. This connects you to researchers across the world who are looking to study your condition and develop treatments.

Your participation may not lead to immediate treatments, but your involvement can lead to important insights for your family and other families in the future. The more surveys we collect over time, the better picture your community, researchers, and doctors will have of what it means to have your genetic condition.

We know you take valuable time out of your day to share information with us and we appreciate your commitment to research. If you ever have any feedback for the clinical data team, please feel free to send an email to coordinator@simonssearchlight.org.

All the best,