|Awarded On||November 02, 2011|
|Title||Novel mechanisms leading to telomere dysfunction and cancer predisposition|
|Award Mechanism||Individual Investigator|
|Institution/Organization||Baylor College of Medicine|
|Principal Investigator/Program Director||Alison A Bertuch|
|Cancer Sites||Head and Neck, Leukemia|
Telomeres are protective structures at ends of our chromosomes. In dyskeratosis congenita (DC), people lack the ability to maintain their telomeres properly due to a mutation in one of several genes that guide cells in making telomere maintenance factors. As a result, people with DC have unstable chromosomes. These unstable chromosomes lead to other genetic changes that drive the development of cancer. Consequently, people with DC have a lot of cancer. For example, about half of those surviving to their mid 40’s will have or had cancer, particularly of the tongue or leukemia. Although a bone marrow transplant can prevent the development of leukemia, there are no therapies that can prevent th...