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Hundreds of individuals every year are diagnosed with devastating medical problems like TS. There are many diseases whose medical mysteries can only be explained with continued and dedicated research. For this reason, the Brain and Tissue Banks for Developmental Disorders were funded by the National Institutes of Health, the nearest one being located at the University of Maryland School of Medicine in Baltimore, MD.

Why is tissue donation important? It is important because the more samples researchers have, the more research they can do, and the faster we will all have answers and meaningful therapies. Some researchers use the tissue samples to begin to understand how the TSC genes function in the human body during development and in tumor formation later in life. Some use the tumor tissues to help in their search for the TSC1 gene on chromosome 9. Others use the tumor tissue to learn more about the changes that occur in the TSC2 gene on chromosome 16 that cause TS. This research will one day lead to the development of diagnostic genetic tests that will benefit everyone.

It is so exciting to know that tissues from individuals with tuberous sclerosis are making a difference! Recently, an adult with TS had to have her kidneys removed because of the tumors that had formed in both kidneys. She contacted NTSA and arrangements were made for the tissues to be donated for research. I had the opportunity to see cells from this donated tissue growing in a dish in Dr. Elizabeth Henske's laboratory in Boston. This tissue has helped Dr. Henske in her search for the TSC1 gene, as well as to understand the growth patterns of tumor cells from the kidneys of individuals with TS. She will use these cells to try to understand how some of these tumors transform into malignant tumors called renal cell carcinomas. Without this tissue donation, these experiments would not be possible.

Tissues donated from an adult with TS who lived in California which were removed at the time of death have helped several researchers in their research on the genetics of tuberous sclerosis. The woman's sister made all the arrangements, and it gave her great comfort to know that the quest for knowledge and medical understanding of TS will carry on with tissues from her sister. "My sister did not die in vain, but will live on in the wonderful work that the researchers are doing on TS. I hope one day that I can say that my sister helped to find the cure for this horrible disease!"

What kinds of tissues are needed? No one should go out and have surgery just to donate tissue. Also, when biopsies are taken, there may not be enough tissue to provide to both the pathologist who analyzes the tissue to decide on further medical treatment and the Tissue Bank. The quality of your treatment should never be compromised because of a lack of tissue due to overzealous donation. The tissue bank is there to collect, store, and distribute tissue provided at the time of surgery or death from individuals with diseases. In particular the following tissues would benefit the researchers at the present time:

1. Brain tissue, brain tumor tissue
2. Skin: facial angiofibromas (removed by surgical means, not lasers), shagreen patches, hypopigmented macules, forehead plaques, periungual fibromas (from around finger or toe nails), normal skin
3. Renal (kidney) angiomyolipomas (tumors)
4. Angiomyolipomas from other organs (liver, pancreas, lymph nodes, etc.)
5. Thyroid
6. Lung
7. Cardiac rhabdomyomas
8. Tumors in eyes