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<\/h2>\n<\/h2>\nSimons Searchlight<\/span> aims to advance understanding of rare genetic neurodevelopmental disorders by collecting high-quality information and building strong connections between researchers, families, and patient advocacy partners.<\/span><\/p>\n The main part of our work is collecting detailed health and genetic information from you. This includes:<\/span><\/p>\n Below is a breakdown of the data we collect through Simons Searchlight<\/span> surveys<\/strong>. The first table shows which surveys are available either as baseline (completed at the beginning of your participation) or annual (repeated every year for updates). The second table outlines which surveys are available based on your selected language.<\/p>\n As part of Simons Searchlight<\/span>, families have the option to donate blood samples for research. This helps scientists learn more about your rare genetic condition.<\/span><\/p>\n There are two ways families can donate blood:<\/strong><\/p>\n We ask families to donate blood samples for an important reason \u2013 it helps scientists to make discoveries that improve our understanding of rare genetic neurodevelopmental disorders.<\/span><\/p>\n Research works better when scientists have lots of samples to study. The more samples they get, the more they can learn about how genetics influence health in rare diseases. Because most participants have a unique variant in their gene, it is important to make sure that your specific variant is available for research \u2013 don\u2019t be left behind<\/strong>.<\/span><\/p>\n Blood samples from families allow researchers to:<\/span><\/p>\n The knowledge gained from blood samples benefits families too. Researchers and doctors take what they learn and develop better treatments and diagnosis methods.<\/span><\/p>\n We know that providing samples takes time and effort. Please know that your donation makes a real difference in advancing research on rare disorders. Below is an educational graphic that outlines more information about the Simons Searchlight<\/span> blood sample collection process.<\/span><\/p>\n How are Blood Samples Used in Simons Searchlight<\/span>?<\/strong><\/p>\n Blood samples can be used to generate different kinds of biospecimens for researchers to analyze in different ways. Most commonly, researchers are analyzing whole blood DNA and are designing experiments with induced pluripotent stem cells or iPSCs that are made from peripheral mononuclear blood cells or PBMCs. Researchers can also analyze lymphoblastoid cells. \u200bKeep reading below to learn more about the iPSC process.<\/strong><\/p>\n What are induced pluripotent stem cells or iPSCs and why are they important for research?<\/strong><\/p>\n Donated blood is used to make research resources, including cell lines, DNA samples, and induced pluripotent stem cells or iPSCs.<\/span><\/p>\n iPSCs are special because they can turn into many different cell types in the body. This lets scientists use special proteins to reprogram the cell to create brain, liver, and heart cells from people with specific genetic conditions. The proteins turn on genes that make the cell act young again, like a stem cell. The cell forgets that it was an adult blood cell. It helps them understand how those cells work differently from the cells in people without the condition.<\/span><\/p>\n As the graphic below shows, iPSCs are useful for<\/strong>\u00a0condition\/disease modeling and drug or treatment screening and discovery.<\/strong><\/p>\n How is the creation of iPSCs determined or prioritized?<\/strong><\/p>\n Genetic variants for iPSC creation are selected based on blood sample availability, active participation in Simons Searchlight<\/span>, SFARI scientific priorities, researcher interest, and feedback from patient advocacy group leaders.<\/p>\n How long does it take to create iPSCs?<\/strong><\/p>\n It takes 6 to 9 months to go from a blood sample to iPSCs. <\/span>Our research program funder, the Simons Foundation<\/span> Autism Research Initiative (SFARI), provides<\/span> these iPSCs as a resource to researchers. This saves them time and money for their research studies.<\/span><\/p>\n The Simons Searchlight<\/span> iPSC creation program is creating iPSCs from participants and one unaffected (sex-matched) family member.<\/span><\/p>\n The SFARI team created a <\/span>spreadsheet<\/span><\/a> that includes information about the iPSC program, prioritization, and detailed status for each cell line (tab 1).<\/span><\/p>\n Read more about all available iPSCs on the <\/span>SFARI website<\/span><\/a>.<\/span><\/p>\n Our main goal is to speed up research and create knowledge that matters to you. Your information makes new discoveries possible, but discoveries don’t help anyone if they’re not shared. We want you, your family, and scientists to benefit from what we collect and learn.<\/span><\/p>\n Here is how we share data and biosamples:<\/span><\/p>\n Our research model puts you at the center. We prioritize research questions that matter most to you and your family. The information we look for is driven by real needs.<\/span><\/p>\n By contributing data over time, you become an active partner in making new discoveries about your condition. By working together, we can transform limited knowledge into meaningful discoveries that benefit you, your family, and future families.<\/span><\/p>\n Relevant resources:<\/strong><\/p>\n Genetic information is most powerful when it is shared<\/p>\n Sharing your information with a data registry may help to improve the diagnosis and treatment of people who have genetic conditions. When a condition is rare, it can be difficult to find people to participate in trials of new treatments.<\/p>\n Contact the Simons Data and Biospecimens Repository team with at questions at sdbr@simonsfoundation.org<\/a>.<\/p>\n We know that you likely have questions about taking part in research. Please reach out to our Simons Searchlight<\/span> study team with any<\/span> questions:<\/span><\/p>\n\n
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<\/p>\nGiving Blood Samples to Help Research<\/strong><\/h3>\n
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<\/p>\nBlood Sample Processing and iPSC Creation<\/b><\/h3>\n
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<\/p>\nSimons Searchlight<\/span> iPSC Program<\/b><\/h3>\n
Sharing Back With Researchers and Participants<\/b><\/h2>\n
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Data Sharing Resources<\/b><\/h2>\n
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Questions?<\/b><\/h2>\n