DNA helix structure and family paper model, Genetic ancestry testing. Family history, gene

Participate in Research

We understand that the information currently available on CUL3-related neurodevelopmental disorder is limited. That's why ongoing research efforts are so important to gain a better understanding of the disorder and provide improved treatment options for those affected.

By actively engaging in research, you contribute to advancing knowledge and paving the way for enhanced diagnosis and support for individuals affected by CUL3-related neurodevelopmental disorder.

We invite you to explore the following ways to participate in research on CUL3.

Join Simons Searchlight: Empowering Families, Advancing Research on CUL3

Simons Searchlight is an online international research program funded by the Simons Foundation Autism Research Initiative (SFARI). Participation in Simons Searchlight is open worldwide to individuals with a confirmed genetic diagnosis from their list of eligible genetic conditions.

A long-standing platform for 15+ years, their primary focus is collecting natural history registry data from individuals and families with specific genetic variants associated with autism, seizures, developmental delays, ADHD, and related neurodevelopmental disorders. Currently, Simons Searchlight collects detailed family, medical, developmental, and behavioral information through online surveys.

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 may be 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 graphic 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-approved 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.

For Researchers:

Researchers worldwide can request access to de-identified data through SFARI Base, which helps drive new discoveries. Over 120 scientific papers have used Simons Searchlight data.

Requesting iPSCs

Donated blood can be 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.

How to Access Data

To access data, follow these three steps:

Create a SFARI Base account at base.sfari.org.
Request the specific datasets you need, such as Simons Searchlight datasets.
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.

For Participants:

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.

Join Simons Searchlight

Be part of a cause that matters. Join Simons Searchlight today and contribute to empowering families and advancing research for the CUL3 community. Learn more and get involved at SimonsSearchlight.org.

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