Data & Biospecimens

Collecting Data and Biospecimens to Reveal Insights

Simons Searchlight advances understanding of rare genetic neurodevelopmental disorders by collecting high-quality data and biospecimens, expertly curating and securely sharing these resources with researchers, and fostering strong partnerships among scientists, families, and patient advocacy organizations.

A central part of our work is collecting two types of research information from participants: long-term health information and optional blood samples. Health information is collected through surveys over time to better understand how conditions change, while blood samples are typically collected once, processed into research biospecimens, securely stored in a biobank, and made available to qualified researchers.

This work involves:

• Surveys and targeted phone follow-ups about your medical history and behaviors. This gives us a full picture of your experiences.
• Periodic updates about your symptoms and quality of life. These long-term data help researchers understand how your health changes over time.
• Optional blood samples are typically collected once to generate research biospecimens (such as DNA, plasma, PBMCs, and iPSCs). Unlike surveys and follow-up information, blood samples are not routinely collected over time to measure changes in health. Instead, they are securely stored in our biobank and made available to qualified researchers.

The table below displays the data we collect through the Simons Searchlight surveys.

Donating Blood Samples to Advance 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 in the United States
  • For participants in the United States, Simons Searchlight offers blood collection through Quest Diagnostics locations nationwide. In some cases, eligible participants may also have the option of an in-home blood draw through TravaLab.
  • At this time, our blood collection program is primarily available within the United States because we do not yet have a standardized process for coordinating phlebotomy and specimen shipping internationally. However, we are actively exploring solutions to expand access for participants around the world. Families outside the U.S. who are interested in providing a blood sample are encouraged to contact our team. We review international blood donation opportunities on a case-by-case basis and are happy to discuss potential options. Please email us at Coordinator@SimonsSearchlight.org.
• At in-person patient advocacy meetings where international families can also donate blood

We ask families to donate blood samples to generate biospecimens that will be available to qualified scientists, working on understanding of rare genetic neurodevelopmental disorders.

Research works better when scientists have a variety of samples that span the different genes and variants 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, investigate across several conditions, and combine 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 are two graphics that outline more information about the Simons Searchlight blood sample collection process.

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. For recently collected blood, we are now making plasma samples derived from the PBMC processing available for researchers.

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

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

To make iPSCs from blood cells, scientists treat the blood cells with specific molecules that make the blood cell forget that it was a blood cell. The resulting iPSCs behave more like the cells of an early embryo or blastocyst. iPSCs are special because they are similar to stem cells and can be turned into many different cell types of the body. This lets scientists make brain, liver, and heart cells from people with specific genetic conditions. It helps them understand how those cells work differently from the cells in people without the condition.

iPSCs are useful for condition/disease modeling and drug or treatment screening and discovery.

• iPSCs are very 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 and 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 useful 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 than their original intent (a process known as “drug repurposing”). Before any treatment is tested on people, it’s first tried out on cells, like e.g. those made from iPSCs or animals 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.

Simons Searchlight iPSC Program

The Simons Searchlight induced pluripotent stem cell (iPSC) program, supported and managed by the Simons Foundation Autism Research Initiative (SFARI), has generated 300 iPSC lines through a partnership with The New York Stem Cell Foundation (NYSCF). This includes 200 lines from individuals with rare genetic conditions and 100 lines from unaffected, sex-matched family members, creating an important resource for researchers studying disease biology and potential treatments.

The SFARI team has 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.

How is the creation of iPSCs determined or prioritized?

The Simons Foundation Autism Research Initiative (SFARI), the funder of Simons Searchlight, supports the targeted generation of iPSCs as a resource for the research community. By making these cell lines available, SFARI helps save researchers time and resources while accelerating scientific discovery.

Blood samples and genetic variants selected for iPSC generation are prioritized by SFARI based on several factors, including blood sample availability, researcher interest and demand, and scientific priorities within the field.

How long does it take to create iPSCs?

After a participant provides a blood sample through Simons Searchlight, the sample is securely stored in the Simons Foundation’s biorepository (SDBR). Selected samples may then be sent to the New York Stem Cell Foundation (NYSCF), where blood cells are reprogrammed into induced pluripotent stem cells (iPSCs), a process that typically takes 9–12 months. Once generated, both blood samples and iPSC lines can be made available to qualified researchers through an approved application process. These resources help scientists better understand rare genetic conditions, study disease biology, and support the development of future therapies.

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 biospecimens:

• We provide data and biospecimens (with your identifying information removed) to researchers worldwide through a secure website called SFARI Base, managed by the Simons Foundation. This allows more scientists to access the data, speeding up new discoveries.
• Researchers can submit an order for iPSC lines or request phenotypic or genetic data linked to individual iPSC lines after creating an account with SFARI Base and following the steps outlined in the system. Read more about iPSCs on the SFARI website.
• We share summarized clinical data and new findings with the families 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:

• Learn more about SFARI Base and how researchers request participant data
• Simons Searchlight Values Collaborations to Advance Research
• Researchers Using Simons Searchlight Data

Questions?

It is likely that you have questions about taking part in research. Please reach out to us anytime! Our Simons Searchlight team is happy to help.

• Email: coordinator@simonssearchlight.org
• Phone: 1-855-329-5638

FAQs