Registry

Join the SETBP1 Registry

Why Work with Simons Searchlight for Online Data and Biosample Collection?

Since 2010, Simons Searchlight has led the way in gathering crucial, long-term data on rare genetic disorders. Their online platform offers a secure space for families worldwide to share insights on genetics, development, medical history, behavior, communication, and motor skills.

How Simons Searchlight Collects Your Valuable Information

  • Long-Term Surveys: Share details about your medical history and behaviors for a comprehensive view of your experiences and to better understand how your condition evolves over time.
  • Optional Blood Samples: Donated blood is used to make research resources, including cell lines, DNA samples, and induced pluripotent stem cells or iPSC Choosing not to provide a sample won’t affect other aspects of your research participation.

Read more about Simons Searchlight Data & Biosample Collection on their website and highlighted in the graphics below.

*SFARI does not automatically create iPSCs for all blood donations collected through Simons Searchlight
**Simons Searchlight has an established process to collect blood from families living in the United States

Here are additional reasons why our community partners with Simons Searchlight for research data collection:

  • Expert Support: Access genetic counselors for guidance and result explanations.
  • Participant Focus: Research prioritizes your needs and important questions.
  • Appreciation: Receive digital gift cards as thanks.
  • Global Access: Join from anywhere in multiple languages.
  • Global Researchers: Simons Searchlight shares de-identified data with qualified researchers for IRB-proved projects.
  • Direct Assistance: Staff are always available to answer your research questions.

Relevant resources:

  • Read the full Simons Searchlight consent form to stay informed
  • Watch this short video to find step-by-step instructions on how to register for Simons Searchlight, visit their website for information or review the step-by-step graphic below:
Sharing Data Insights Back With Researchers and Participants

Simons Searchlight’s main goal is to speed up research and uncover information that’s important to your genetic community. Your contribution is crucial for making new discoveries, but Simons Searchlight understands that these findings need to be shared to help others too. They want individuals, their families, and researchers to benefit from the knowledge gained.

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For Researchers

Researchers worldwide can access de-identified data through SFARI Base, which helps drive new discoveries. Over 100 scientific papers have used Simons Searchlight data.

Requesting iPSCs

Donated blood is used to create valuable research resources like cell lines, DNA samples, and selected induced pluripotent stem cells (iPSCs). Researchers can request iPSCs for further studies. Learn more on the SFARI website. To request iPSCs, follow these steps:

  1. Create a SFARI Base account at base.sfari.org.
  2. Request the specific iPSCs you need.
  3. The SFARI Data and Biospecimens Repository (SDBR) team will review and approve your request within two weeks.

How to Access Data

To access data, follow these three steps:

  1. Create a SFARI Base account at base.sfari.org.
  2. Request the specific datasets you need, such as Simons Searchlight datasets.
  3. The SFARI Data and Biospecimens Repository (SDBR) team will review and approve your request within two weeks.

Researchers can start today by visiting SFARI Base or emailing sdbr@simonsfoundation.org. Here is a helpful slide deck with more information.

For Patients
  • Summarized and Personalized Research Updates: New findings are shared through conferences, webinars, quarterly reports, and personalized results about you and your genetic community on your dashboard. Personalized results available for the SCQ, SRS, CBCL and Seizure History Survey.
  • Gene-Specific Community Pages: Visit your genetic community’s webpage featuring current data reports, support resources, family stories and more.
  • Summarizing Scientific Publications: Discover research papers enabled by families via the Simons Searchlight research registry on our ‘Publications’ webpage. See firsthand how participants’ contributions drive translational science and empower families worldwide.

By sharing information over time, individuals contribute to new discoveries about their condition, helping to transform knowledge into benefits for their genetic community now and for future generations.

Relevant videos and links:

Join Simons Searchlight

Be part of a cause that matters. Join Simons Searchlight today and contribute to empowering families and advancing research for the SETBP1 community. Learn more and get involved at SimonsSearchlight.org.

Questions? Reach out to the Study Coordinators with any questions at Coordinator@SimonsSearchlight.org.