DMMC Course: UNRAVELLING CHROMATIN & THE ROLE OF EPIGENETICS IN DISEASE

1010-1030 Wednesday 26 April 2006. UCD Conway Institute Lecture Theatre

Epigenetics in the diagnostic setting
Dr David Barton (Chief Scientist, National Centre for Medicial Genetics, Our Lady's Hospital for Sick Children, Dublin)

This talk will focus on the diagnostic strategies used to study DNA methylation where this is important in diagnosing inherited or acquired genetic disorders. Genetic imprinting underlies several common genetic disorders, the most prominent being Prader-Willi, Angelman and Beckwith-Wiedeman syndromes. Uniparental disomy is implicated several genetic disorders, reflecting the presence of imprinted genes on the chromosome involved. X-inactivation is an epigenetic phenomenon with many consequences for inherited disorders, particularly in permitting partial penetrance of the carrier state in X-linked recessive disorders. Promoter methylation is an important factor in gene silencing in cancers and in disorders such as Fragile X syndrome. Diagnostic assays which have been developed to detect and quantify the epigenetic signatures underlying each of these classes of disorder will be described.

Resources

Review: Rodenhiser, D. and Mann, M. (2006). Epigenetics and human disease: translating basic biology into clinical applications. Canadian Medical Association Journal. 174, 341-348 PubMed Entry