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  • Amanda N

Donating Blood or Tissue Samples to Support Research on Rare Diseases

Updated: Oct 29, 2023

One way you can contribute to advancing scientific knowledge of rare diseases such as CUL3 is by donating blood or tissue samples for research purposes. By doing so, you can directly support initiatives aimed at better understanding neurodevelopmental disorders and improving the lives of individuals affected by them.

Simons Searchlight

If you read the section on our website about how to participate in research on CUL3, you will know that Simons Searchlight is an international research program that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders. They collect detailed family, medical, developmental and behavioral information through online surveys and phone interviews.

But did you know that as part of their research program, Simons Searchlight also collects blood samples from those families who consent to do so? The blood samples collected for Simons Searchlight are de-identified and stored at a research repository. Qualified researchers can then request to access these blood samples to better understand the genetic variants in Simons Searchlight. Please note this option is only available for families in the United States.

The process is as follows: when you sign up for Simons Searchlight there is a place during registration where you can choose “yes” to the optional biospecimen collection in the consent form. You will then receive a kit and instructions on how to find your local Quest Diagnostics to schedule an appointment. Quest Diagnostics will draw your blood, package the kit, and ship the samples for you. There should be no costs associated with this sample collection, so if you are asked to cover any costs, please reach out to Simons Searchlight before paying them.

You can sign up for the research program here:

If you have any issues with the process or need the instructions re-sent, contact the Simons Searchlight Study Coordinators by email at

Coriell Institute

One prominent institution where you can donate your samples is the Coriell Institute for Medical Research. As an independent, non-profit biomedical research center, Coriell is dedicated to the study of the human genome. The Coriell Institute works in collaboration with the NIGMS Human Genetic Cell Repository, which is sponsored by the National Institute of General Medical Sciences, to serve as a cell bank, storing cell lines used by scientists worldwide for cell and genetic research.

In essence, a cell repository is a specialized storage facility for cell lines. To create a cell line, human cells are obtained from either a blood or tissue sample and cultivated in a container with a growth solution. This process, known as cell culturing, allows the cells to multiply and thrive. Once the cells have undergone culturing, they can be harvested, frozen, and stored for long-term preservation. The medical and family history of the sample donor is also collected to provide vital context for future research. Researchers can access these banked cell lines to pursue a range of objectives.

To donate your sample to the NIGMS Repository, it is necessary for you or your child to have an inherited genetic disease or a chromosome abnormality. You can contact the Coriell Institute at to inquire about your eligibility, discuss the donation process further, and to request a sample collection kit. They cover the cost of the collection kits and the shipping of your sample(s) to their facility. Furthermore, if the sample you donate leads to the establishment of a cell line that is accepted for inclusion in the NIGMS Repository's Online Catalog, you will have the opportunity to designate a qualified researcher of your choice to receive a single "back-to-submitter" sample at no charge.

By donating your blood or tissue samples, you become an invaluable contributor to the effort of unraveling rare diseases. Your generosity empowers researchers and scientists to make groundbreaking discoveries, develop innovative treatments, and ultimately bring hope to individuals and families affected by these conditions.


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