Registry

Registry

The National Cancer Institute (NCI) is conducting a long-term study to better understand the medical problems and genetic aspects of telomere biology disorders (TBDs). This study has evaluated more than 120 families with TBDs since 2002. By incorporating detailed clinical and family history information with biospecimen collections, we have discovered the genetic causes of an advanced understanding of the complex medical challenges faced by patients and their families.

We strongly believe in the importance of collaboration and work with more than 50 clinicians and scientists in the U.S. and around the world as part of the Clinical Care Consortium of Telomere-associated Ailments (CCCTAA). Dr. Sharon Savage is the principal investigator of the TBD study at the NCI and the chair of the Team Telomere Medical Advisory Board.

The TBD registry is nested within the NCI’s inherited bone marrow failure syndromes study, which allows comparison with similar disorders to improve patient diagnosis and management. More information is available at https://marrowfailure.cancer.gov/disorders/telomere.html. 

If you are interested in participating, please call 1-800-518-8474 or email by clicking the link below.

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