Connecting Rare and Common Illnesses: Lessons Learned from Dyskeratosis Congenita, the Prototypic Telomere Biology Disorder

Director's Seminar Series Dyskeratosis congenita (DC) is a cancer-prone inherited bone marrow failure syndrome classically diagnosed by the presence of the mucocutaneous triad of nail dysplasia, abnormal skin pigmentation, and oral leukoplakia. While the classic triad is not always present, very short leukocyte telomeres are diagnostic of DC and patients with DC have germline mutations in key telomere biology genes. Telomeres, tandem nucleotide repeats and a protein complex at chromosome ends, are essential in preserving genome integrity, shorten with each cell division, and thus are a marker of cellular replicative capacity. DC is one of a group of clinically and biologically related telomere biology disorders including Hoyeraal Hreidarsson syndrome, Revesz syndrome, Coats plus, and subsets of aplastic anemia, pulmonary fibrosis, non-alcoholic and non-infectious liver disease, and leukemia. Dr. Savage’s studies of DC within the NCI’s Inherited Bone Marrow Failure Syndromes study have led to the discovery of three of the genetic causes of DC, improved clinical characterization of patients, and formed the foundation for the telomere molecular epidemiology research program. In addition to discussing the discovery and underlying molecular biology of highly penetrant germline mutations in telomere biology genes in DC, Dr. Savage will highlight the connection between telomere length studies and cancer risk in the general population. Air date: 11/1/2013 12:00:00 PM
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