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Individuals & Families

Biosample Repository and Natural History Database

The TSC Biosample Repository stores samples of blood, DNA, and tissues scientists can use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database.

Natural History Database

Implemented in 2006, the TSC Natural History Database captures clinical data to document the impact of the disease on a person’s health over his or her lifetime. More than 2,000 people with TSC are enrolled in the Natural History database and more than 800  people have contributed biosamples. The biosamples and data about individuals who provided samples help researchers discover biomarkers of TSC, test potential drug treatments, and determine why TSC is so different from person to person. If you are interested in participating or learning more, please fill out the interest form to the right.

Biosample Contribution

Why Participate in the TSC Biosample Repository

 

Blood Samples

The TSC Biosample Repository is collecting samples from TSC Natural History Database participants at specific clinics and via mobile blood collections. In coordination with a national mobile phlebotomy service (Phlebotek), the TS Alliance can collect blood samples from anyone in the United States with TSC. If you are interested in participating or learning more, please fill out the brief interest form in the sidebar to the right. Someone from the Science and Medical team will be in touch shortly. The TS Alliance hopes to collect blood samples from participants once per year.

The TS Alliance also accepts blood samples from volunteers enrolled in the TSC Natural History Database at the following sites:

  1. Boston Children’s Hospital, Boston, MA (Mustafa Sahin, MD, PhD)
  2. Cincinnati Children’s Hospital Medical Center, Cincinnati, OH (Darcy A. Krueger, MD, PhD)
  3. Massachusetts General Hospital, Boston, MA (Elizabeth A. Thiele, MD, PhD)
  4. Minnesota Epilepsy Group, PA, Paul, MN (Michael D. Frost, MD)
  5. New York University Langone Medical Center, New York, NY (Orrin Devinsky, MD)
  6. Nicklaus Children’s Hospital, Miami, FL (Ian O’Neil Miller, MD)
  7. Texas Scottish Rite Hospital for Children, Dallas, TX (Steven P Sparagana, MD)
  8. University of Alabama, Birmingham, AL (Martina Bebin, MD, MPA)
  9. University of California Los Angeles (UCLA), Los Angeles, CA (Rajsekar Rajaraman, MD)
  10. University of Chicago, Chicago, IL (James Tonsgard, MD)
  11. University of Texas Health Science Center, Houston, TX (Hope Northrup, MD)
  12. Washington University, St. Louis, MO (Michael Wong, MD, PhD)

Individuals with TSC seen at one of the participating institutions may ask their health care provider or clinic coordinator about participating in the TSC Natural History Database and Biosample Repository. If you are interested in participating or learning more, please fill out the brief interest form in the sidebar to the right.

Tissue Samples

If an individual with TSC is having surgery to remove any part of tissue – such as epilepsy surgery, SEGA removal, or kidney or lung surgery –please contact the TS Alliance with as much advance notice as possible at biosample@tsalliance.org. The TS Alliance is also able to collect cord blood and placental tissue. For postmortem tissue donations, please see the “Post-Mortem Brain Donation” below.

Research Updates

Biosample Distribution

As of September 1, 2020, we have distributed 824 biosamples to 23 researchers. Some examples of projects conducted using biosamples include bioassays measuring levels of cellular activity, screening for novel therapeutic targets, detecting biomarkers, and measuring metabolites in blood and comparing them with phenotypes reported in the Natural History Database. DNA extracted from cheek swabs and blood samples can be used for genetic testing to detect TSC variants, plasma from blood samples can be used to assay for predictive biomarkers or biomarkers of response and tissue samples are used to detect tissue-specific markers and cell types that are important for studying TSC progression.

Partnership with Seizure Tracker

The TS Alliance has established a data sharing partnership with Seizure Tracker. Users may elect to share their patient-reported data from the Seizure Tracker application with the TS Alliance for use by TSC researchers. If you are a Seizure Tracker user and are interested in linking your Seizure Tracker data, please fill out this interest form and someone from the TS Alliance Science team will be in touch shortly. Seizure Tracker is the largest repository of patient-entered seizure and therapy data in the world. If you or your loved one with TSC has epilepsy but does not use seizure tracker and is interested in learning more about it, please contact info@SeizureTracker.com. An example of data from the TSC user population is shown below.

To learn more about this partnership, listen to an interview with Rob Moss, Co-Founder of SeizureTracker, and Gabrielle Rushing, PhD, TS Alliance Associate Director of Research at the TS Alliance from the August 2020 episode of TSC Now:

For Researchers

If you are a researcher interested in using samples from the TSC Biosample Repository in your work, please see here for more information.

Post-Mortem Brain Donation

The University of Maryland Brain and Tissue Bank (MBTB) makes arrangements for this type of precious gift on behalf of the TS Alliance. Individuals living anywhere in the United States who wish to donate whole brain tissue after death should contact MBTB at btbumab@som.umaryland.edu. If death is imminent and you would like to donate brain tissue, please call the MBTB as soon as possible at 1-800-847-1539.

Successful donation rests on swift and thorough communication between family members, healthcare professionals, and the MBTB. Although the MBTB will make every effort to retrieve tissue in an emergency, tissue recovery may be impossible if there is no advance notice.  Please click here for instructions on how to register in advance for postmortem donation. There is no cost to the family to donate.

Acknowledgements

The TSC Biosample Repository is governed and wholly funded by the TS Alliance thanks to generous support from Lorne Waxlax, William Watts, the Cowlin Family Fund, Jim and Andrea Maginn, and many additional donors through the Unlock the Cure campaign.