Data & Biosamples

Collecting Data and Biosamples to Reveal Insights

Simons Searchlight 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.

The main part of our work is collecting detailed health and genetic information from you. This includes:

  • Surveys and targeted phone follow-ups about your medical history and behaviors. This gives us a full picture of your experiences.
  • Asking you to continually track any symptoms and quality of life over time. These long-term data show us how your health conditions change with time.
  • Optional blood samples which are used to learn about biological changes. If you decide to not give a blood sample this will not affect your involvement in our research program.

Find a breakdown of the data we collect through Simons Searchlight surveys below. The first table summarizes existing data, and the second table shows the information we intend to gather in future surveys.

Giving Blood Samples to Help Research

As part of Simons Searchlight, families have the option to donate blood samples for research. This helps scientists learn more about your rare genetic condition.

There are two ways families can donate blood:

  • At local Quest Labs (US-based families)
  • At in-person patient advocacy meetings where international families can also donate blood

We ask families to donate blood samples for an important reason – it helps scientists to make discoveries that improve our understanding of rare genetic neurodevelopmental disorders.

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 – don’t be left behind.

Blood samples from families allow researchers to:

  • Compare samples to see differences between people with and without a condition – this helps them spot important patterns.
  • Test new technologies for analyzing samples – this leads to new insights over time.
  • Accelerate discoveries by facilitating collaboration. Researchers can come together using shared samples, combining expertise to find answers quickly.

The knowledge gained from blood samples benefits families too. Researchers and doctors take what they learn and develop better treatments and diagnosis methods.

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 blood sample collection process.

Blood Draw Collection Process

Blood Sample Processing and iPSC Creation

How are Blood Samples Used in Simons Searchlight?

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. ​Keep reading below to learn more about the iPSC process.

What are induced pluripotent stem cells or iPSCs and why are they important for research?

Donated blood is used to make research resources, including cell lines, DNA samples, and induced pluripotent stem cells or iPSCs.

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.

As the graphic below shows, iPSCs are useful for condition/disease modeling and drug or treatment screening and discovery.

  • iPSCs are like super versatile tools for studying diseases. They let scientists explore how genes and proteins affect human cells without needing to do anything invasive. By starting with blood cells and turning them into iPSCs, then into brain cells, researchers can watch how brain cells interact in the lab. This helps them understand diseases better before trying treatments.
  • iPSCs are also key for testing new drugs and treatments designed specifically with you and others in your community in mind. Scientists use brain cells made from iPSCs to check if existing drugs might work for different diseases. Before any treatment is tested on people, it’s first tried out on these cells to make sure it’s safe and does what it’s supposed to. It’s a crucial step to make sure treatments are safe and effective before they’re used in patients.

How long does it take to create iPSCs?

It takes 6 to 9 months to go from a blood sample to iPSCs. Our research program funder, the Simons Foundation Autism Research Initiative (SFARI), provides these iPSCs as a resource to researchers. This saves them time and money for their research studies.

Simons Searchlight iPSC Program

The Simons Searchlight iPSC creation program is creating iPSCs from participants and one unaffected (sex-matched) family member.

The SFARI team created a spreadsheet that includes information about the iPSC program, prioritization, and detailed status for each cell line (tab 1).

Read more about all available iPSCs on the SFARI website.

Sharing Back With Researchers and Participants

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.

Here is how we share data and biosamples:

  • We provide data (with your identifying information removed) to researchers worldwide through a free website called SFARI Base. This allows more scientists to access the data, speeding up new discoveries.
  • Researchers can request iPSCs to further their work. Read more about all available iPSCs above and on the SFARI website.
  • We share new findings through conferences, webinars, quarterly reports, and personalized results about you and your genetic community on your dashboard. This keeps your community engaged and informed.
  • We connect you with medical experts like genetic counselors who can explain your results. Knowledge is more empowering when you have support.

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.

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.

Relevant resources:

Data Sharing Resources

Genetic information is most powerful when it is shared

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.

  • Find more resources on how to share your information with a data registry, data privacy and what to expect.

Contact the Simons Data and Biospecimens Repository team with at questions at sdbr@simonsfoundation.org.

Questions?

We know that you likely have questions about taking part in research. Please reach out to our Simons Searchlight study team with any questions: