MIG Seminar – Kathryn Burdon – 1st June, 2018
Menzies Institute for Medical Research, University of Tasmania
Friday 1st June
FW Jones Theatre, Medical Building, The University of Melbourne
Molecular genetics of childhood cataract: a journey from families to fish via genomes
Childhood cataract is a primary cause of visual impairment in children. It is extremely heterogeneous with over 80 genes known and more to be discovered. Our research program has identified several genes for cataract, improving the diagnostic possibilities for patients and contributing to our understanding of lens biology. This presentation will describe the recent progress in the genetics of childhood cataract, including the use of exome and genome sequencing in families, overlaps with age-related cataract and the intricacies of incomplete penetrance in a predominantly Mendelian inherited disease.
Kathryn was awarded her PhD in 2004 from the University of Tasmania in the genetics of paediatric cataract. She then spent two years as a post-doctoral fellow at Wake Forest University Baptist Medical Center in North Carolina, USA, working on genetics of the cardiovascular and renal complications of diabetes mellitus. On her return to Australia in 2005 she joined the Department of Ophthalmology at Flinders University where she ran a research group focused on the identification of genes for blinding diseases. In early 2014 she returned to the University of Tasmania to join the genetics theme at the Menzies Institute for Medical Research where she has established an ocular genetics research program investigating the genetics of paediatric cataract, keratoconus and diabetic retinopathy.
Enquiries: Andrew Siebel (firstname.lastname@example.org)