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Hundreds of individuals every year are diagnosed with devastating medical problems about which there is little understanding.  Tuberous Sclerosis Complex (TSC), autism spectrum disorder, dystonia, Charcot-Marie Tooth Disease, von Hippel-Lindau Disease, multiple sclerosis, neurofibromatosis, and myositis are just a few of the perplexing medical mysteries whose answers will only be found with continued and dedicated research.  For this reason, the NICHD Brain and Tissue Bank for Developmental Disorders was funded by the National Institutes of Child Health and Human Development with the expressed goal of advancing meaningful research.  The NICHD Brain and Tissue Bank serves the critical purpose of collecting, preserving, and distributing human tissues to qualified scientific investigators dedicated to the improved understanding, care and treatment of genetic and developmental disorders.

In hundreds of labs in every major city, there are researchers who have dedicated their careers to finding a cure for everyone’s children, and for every suffering adult.  Their dedication is great, their compassion strong, but their work cannot move forward without the help of many other caring individuals.  Human tissue donated at the time of surgery or death by people of all ages, especially those afflicted with a genetic or developmental disorder, is the most precious resource on which these researchers depend.  It is in human tissues, particularly the brain, that many dysfunctions occur and manifest themselves.  By examining these tissues, comparing the unaffected with the affected, or by comparing different age groups, sexes, etc., scientists can begin to unravel endless questions.  As answers unfold so will deeper understanding, offering hope to the lives of us all.

A Precious Resource

The NICHD Brain and Tissue Bank for Developmental Disorders reaches out to individuals and organizations across the United States to encourage donor registration.  For some, this may be difficult to consider in light of the emotional stress that they have already undergone.  For others, this commitment may offer a sense of purpose.  It may offer comfort in knowing that the quest for knowledge and medical understanding will carry on.

The Tissue Donation

Human tissue donation is a very precious gift.  The decision to donate may raise both personal and practical questions.  In deciding, the following points are helpful to know.  The procedure to recover tissue at the time of death will not interfere with open casket viewing.  Since donation is accepted by most religious organizations, traditional funeral services may be planned.  There is no financial burden placed on one’s family as a result of this decision, as the NICHD Brain and Tissue Bank covers extra expenses related to the recovery of tissue.  The focus of the Bank is understanding, treatment and cure for the many disorders that occur in the lives of individuals.  Many of these disorders have their origins at birth and are manifested early in life, but many do not occur until late in life.  Anyone, regardless of age, is invited to donate.  All donor information remains anonymous, and anyone who pre-registers with the Brain and Tissue Bank holds the right to withdraw consent any time before tissue recovery.

To Register

If you are interested in pre-registering with the Brain and Tissue Bank, you may do so at their web site or contact them by phone or e-mail.  Your information is stored in their confidential and secure database.  You may also decide not to pre-register and contact the Brain and Tissue bank at the time of surgery when you would like to make a tissue donation, or when a loved one’s death is imminent.  However, the more advance time the team at the Brain and Tissue Bank has to make the arrangements with you for the tissue donation, the better. 

If you choose to pre-register with the Brain and Tissue Bank, contact them and they will provide you with the information and consent forms to fill out and return to them.  Please remember the importance of advance registration and early notification in the event of surgery, illness or death.  The successful donation rests on swift and thorough communication between many professionals and family members.  Although the Bank will make every effort to retrieve tissue in an emergency, if the staff of the Bank has no advance notice, tissue recovery may be impossible.  Please inform your family members and physician(s) of your intent to donate.  This is extremely important since the next of kin must give final permission for the tissue recovery, even if a donor has registered in advance.  You may call the Bank (see below) from anywhere in the continental United States to address any questions or concerns.

Tissue Recovery at the Time of Death

The next of kin or other authorized individual must give the Brain and Tissue Bank final authority for tissue recovery.  They should call the Bank or the TS Alliance if surgery or death is imminent, or as soon as possible after they have been notified of the donor’s death.  Calls are taken 24 hours a day.  It is also imperative that medical and funeral personnel are aware of donor registration.  The Bank will respond with immediate and sensitive attention to make every attempt to insure successful tissue recovery.

What Tissues Are Needed?

Many different tissues from individuals with tuberous sclerosis complex are needed for ongoing research projects.  In particular, the following tissues would benefit the researchers at the present time:

  • Brain tissue – removed at the time of surgery for seizures (tubers) or at death  
  • Brain tumor tissue (subependymal giant cell astrocytoma or SEGA) – removed at the time of surgery 
  • Skin – facial angiofibromas, shagreen patches, hypopigmented macules, forehead plaques, periungual fibromas (from around either fingernails or toenails), normal skin  
  • Renal angiomyolipomas, renal cell carcinoma or other kidney tumors   
  • Angiomyolipomas removed from other organs (liver, pancreas, lymph nodes, etc.)  
  • Thyroid  
  • Lung  
  • Cardiac rhabdomyomas 
  • Tumors in eyes  
  • Blood samples for genetic research

How Much Surgical Tissue Is Needed?

Even very small pieces of tissue can be used in TSC research.  Tissue donation should never raise any risks for the health of the individual with TSC.  Also, the donor and next of kin should realize that tissue samples may be needed for pathological studies in order to determine what further medical treatment may be necessary. Pathological examination of tissue always takes precedence over tissue donation for research.

What Are the Tissues Used For?

Researchers use the tissue samples in many different ways.  Some use the tumor tissues to study the function of the TSC1 and TSC2 genes.  Neuropathologists use the brain tissue samples to learn more about the kinds of cells which are affected by TSC in the brain and to understand what cells are present or missing in brain tubers or in subependymal giant cell tumors seen in TSC. Still other researchers use the tissue samples from the brain to study the cause(s) of epilepsy in TSC.  The hope is that this research will one day lead to therapies designed to reverse or stop the growth of tumors or to treat epilepsy in individuals with TSC.

What Are Blood Samples Used For?

When blood samples are given in conjunction with a tissue sample, the blood samples may be used by the Brain and Tissue Bank to test for hepatitis, HIV or other agents that may be present in the blood.  This testing will never be performed without your consent, so be sure you understand the informed consent forms you will be asked to sign.  Any testing will be kept strictly confidential within the records of the Brain and Tissue Bank.  The tissue donor should understand that testing for these agents is not meant to invade your privacy, but that it is very important for the researchers to know if tissue samples have either hepatitis or HIV since it may drastically alter their ability to receive the tissue or how they handle tissue samples. If a potential donor is known prior to donation to be HIV positive, tissue will not be collected since such tissue cannot be distributed by the Bank. 

Why Donate to the Tissue Bank and Not to a Specific Researcher?

The primary reason to donate to the NICHD Brain and Tissue Bank and not directly to one researcher is that the Brain and Tissue Bank is funded by the National Institutes of Health to coordinate storage and distribution of tissue samples for research on developmental disorders.  They have staff dedicated to this function and are prepared to assist in the coordination of the tissue donation, the preparation of the tissue samples, the storage of the tissue samples, and the distribution of the tissue samples in a fair and equitable manner to all qualified researchers who are interested in obtaining tissue samples for research purposes.  Most individual researchers do not have the resources or facilities to handle the storage of large amounts of tissue, or to prepare and ship the tissue samples to other investigators.  This was done in the past on a limited basis, but, with research resources shrinking every day, it is crucial that the researchers can use their limited resources to focus on the research at hand and allow the Brain and Tissue Bank to serve them by coordinating the retrieval, storage and distribution of tissue samples.  In addition, the tissue samples are of more benefit to individuals with TSC when they are contributed to the Brain and Tissue Bank because the tissue samples will be shared with several labs doing research on TSC.  Everyone benefits from the tissue donation, and research will move forward more rapidly.

Thank you for considering becoming a tissue donor.  Please do not hesitate to contact the TS Alliance by calling 800-225-6872 if you have questions about any aspect of this program.

University of Maryland
Department of Pediatrics
Room 13-013 BRB
655 W. Baltimore Street
Baltimore, MD 21201-1559
Phone:  1-800-847-1539 FAX: (410) 706-2128

Written by H. Ronald Zielke, Ph.D., Director Anthony Weldon, Jr., Project Coordinator, NICHD, March 2011.

**Tuberous Sclerosis Alliance Information Sheets are intended to provide basic information about TSC. They are not intended to, nor do they, constitute medical or other advice. Readers are warned not to take any action with regard to medical treatment without first consulting a health care provider.  The TS Alliance does not promote or recommend any treatment, therapy, institution or health care plan.

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