Australian Inherited Retinal Disease Register & DNA Bank

About our Research

The aim of this work is to establish a comprehensive Australian Inherited Retinal Disease (IRD) Register and DNA Bank, and to progressively genetically analyse stored DNA samples in an attempt to identify IRD-causing mutations.

The number of DNA samples is steadily growing to thousands.  A summary of this work including DNA samples collected and results of genetic analyses can be found on our web-site (without identifying information) www.scgh.health.wa.gov.au/Research/InheritedRetinal.html.   DNA may be made available to other approved research groups who wish to carry out and report back on IRD targeted genetic analyses, thereby increasing the power of this resource. Under no circumstances will participants’ identifying information be provided to other research groups. 

As the project progresses, the list of individuals within Australia for whom disease causing mutations have been identified will grow.  The well-considered conduct of this project will therefore place Australians affected by specific IRDs in an enviable position for taking advantage of gene-specific treatments as they continue to emerge over the coming years, and may lead to informed genetic counselling for participants.

This research is entirely supported by grants from the Western Australian Retinitis Pigmentosa Foundation (www.retinitispigmentosa.com.au) and Retina Australia (www.retinaaustralia.com.au).

How can I participate?
If you wish to be involved in this work please contact Tina Lamey on 08 9346 3586 or tina.lamey@health.wa.gov.au