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Description:
The relevance of telomeres to the pathogenesis and outcomes of bone marrow failure and other diseases is becoming increasingly apparent, extending beyond the rare telomere biology disorder, dyskeratosis congenita. The speakers in this session will describe our current understanding of the factors that govern telomere maintenance, how these mechanisms may fail, the clinical consequences when they do, and approaches to counteracting telomere attrition.
Dr. Steven Artandi will describe the biology of telomeres and the properties governing telomerase's ability to elongate them. In addition, he will describe mechanisms underlying telomerase dysfunction in telomere syndromes.
Dr. Maria Blasco will present work from a mouse model of aplastic anemia produced by short telomeres and strategies of telomerase activation that are effective in treating the disease.
Dr. Mary Armanios will present an overview of the extrahematopoietic manifestations of telomere syndromes including pulmonary fibrosis, emphysema and liver disease. The natural history of these complications, and their relevance to diagnostic and treatment decisions for patients with bone marrow failure will be reviewed.