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.
“The TSC Alliance’s mobile phlebotomy initiative made it easy for our daughter to participate safely and in the comfort of our own home.”
“We are so grateful for the many advances in TSC Research and for the patients and parents who have offered data and samples, contributing to this great progress.”
“By participating in the Tuberous Sclerosis Complex Research and the Biosample Repository Program, we know we will bring new hope for patients afflicted, no matter how immediate.”
“We highly recommend any parent or TSC adult to participate in the process to seek cure of TSC.”
“Our hope is that by participating maybe we will benefit from the research but if not, others will.”
“I chose to participate in the Biosample Repository because I was asked by caring people in similar situations and it is the right thing to do for her.”
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 TSC 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 TSC Alliance hopes to collect blood samples from participants once per year.
The TSC Alliance also accepts blood samples from volunteers enrolled in the TSC Natural History Database at the following sites:
- Boston Children’s Hospital, Boston, MA (Mustafa Sahin, MD, PhD)
- Children’s National Medical Center, Washington D.C. (William McClintock, MD)
- Cincinnati Children’s Hospital Medical Center, Cincinnati, OH (Darcy A. Krueger, MD, PhD)
- Massachusetts General Hospital, Boston, MA (Elizabeth A. Thiele, MD, PhD)
- Minnesota Epilepsy Group, PA, Roseville, MN (Doug Smith, MD)
- New York University Langone Medical Center, New York, NY (Josiane LaJoie, MD)
- Nicklaus Children’s Hospital, Miami, FL (Paula Schleifer, MD)
- Texas Scottish Rite Hospital for Children, Dallas, TX (Steven P Sparagana, MD)
- University of Alabama, Birmingham, AL (Martina Bebin, MD, MPA)
- University of California Los Angeles (UCLA), Los Angeles, CA (Rajsekar Rajaraman, MD)
- University of Chicago, Chicago, IL (James Tonsgard, MD)
- University of Texas Health Science Center, Houston, TX (Hope Northrup, MD)
- 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.
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 TSC Alliance with as much advance notice as possible at firstname.lastname@example.org. The TSC Alliance is also able to collect cord blood and placental tissue. For postmortem tissue donations, please see the “Post-Mortem Brain Donation” below.
Since inception, the TSC Biosample Repository has distributed 1,852 samples to 40 distinct researchers for 46 distinct projects. 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.
Publications Using TSC Biosamples
- Hsieh L, Wen J, Nguyen L, Zhang L, Getz S, Torres-Reveron J, Wang Y, Spencer D, and Bordey A. Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice. Sci Transl Med.
2020 Nov 18;12(570):eabc1492. doi: 10.1126/scitranslmed.abc1492. Read the Article
- The authors found a link between the expression of a channel protein called HCN4 (hyperpolarization-activated cyclic-gated potassium channel isoform 4) and seizure activity when present in neurons in mouse brains. They found that elevated mTOR activity led to HCN4 expression in mice and found HCN4 expression in brain tissues resected from patients with TSC.
Partnership with Seizure Tracker
The TSC Alliance has established a data sharing partnership with Seizure Tracker. Users may elect to share their self-reported data from the Seizure Tracker application with the TSC Alliance for use by TSC researchers. To learn more, please visit tscalliance.org/seizuretracker.
You can also listen to an interview with Rob Moss, Co-Founder of SeizureTracker, and Gabrielle Rushing, PhD, TSC Alliance Associate Director of Research at the TSC Alliance from the August 2020 episode of TSC Now:
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 TSC Alliance. Individuals living anywhere in the United States who wish to donate whole brain tissue after death should contact MBTB at email@example.com. 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.
The TSC Biosample Repository is governed and wholly funded by the TSC 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.