Department of Ophthalmology seminar: Lessons learned from disease causing connexin mutations Event as iCalendar

18 February 2014

12 - 1pm

Venue: Seminar Room 503-020, Building 503, 85 Park Road, Grafton

Autosomal-dominant mutations in the genes encoding Cx26, Cx30 and Cx43 that lead to hearing loss can cause various skin diseases and oculodentodigital dysplasia (ODDD). Interestingly, a number of  point mutations in Cx26 and Cx30 have been identified that result in only hearing loss while others exhibit dominant and trans-dominant phenotypes resulting in both hearing loss and various forms of human skin disease.

ODDD is primarily an autosomal-dominant human disorder where patients commonly display symptoms of congenital craniofacial deformities, ocular defects, enamel loss and limb abnormalities. There are over seventy known Cx43 gene mutations linked to ODDD.

In recent years we have established several bench-to-bedside studies involving in vitro and transgenic mouse models, and patient samples from around the world. We have begun a repository of ODDD patient samples and established cell lines that can be further used to explore the etiology of ODDD. The long term goal is to develop strategies to compensate for cellular defects caused by these mutants.

Speaker : Professor Dale Laird, University of Auckland Distinguished Visitor, Canada Research Chair in Gap Junctions and Disease, Department of Anatomy and Cell Biology, University of Western Ontario, Canada

For further information please contact Professor Colin Green Email: