Researchers at the University of Tasmania's Menzies Institute for Medical Research have received a $2.7milion grant for a new program, with the aim to make genetic testing for childhood cataract more accurate and helpful for families.
Childhood cataract is a rare but serious condition which can cause lifelong vision problems if not treated early. Unlike cataract in adults, it is difficult to treat in children and can lead to blindness if left untreated.
Menzies' Professor Kathryn Burdon , lead researcher on the project, said genetic testing was an important part of diagnosing and treating childhood cataract, but current tests didn't always provide answers. The Genetics of Cataract research program (GenCat) aims to improve understanding and transform the way these conditions are understood by families and clinicians.
Professor Kathryn Burdon said she hoped there would be greater understanding for clinicians and their patients:
"Many of the families in our study have been waiting for answers for more than 20 years, and I hope we can finally provide them with the clarity they deserve,"
With funding from the National Health and Medical Research Council, the GenCat team will use advanced genome sequencing and cutting-edge lab techniques to identify more of the genes that cause cataract and understand which genetic changes are harmful. This will improve the success rate of genetic tests and help families get clear answers.
Childhood cataract affects about 2 in every 10,000 live births in Australia. Around half of cases are caused by genetic changes, even when there is no family history. There are more than 60 known cataract genes, but current tests only solve about half of cases.
"Modern surgical techniques mean cataract isn't a big deal for most Australians these days, but when it happens in a growing eye it's a very different story," Professor Burdon said.
"It's difficult to treat, with lots of complications, and if you do nothing the child may lose their eyesight."
The team includes researchers from the Menzies Institute for Medical Research, the Centre for Eye Research Australia, Flinders University and Western Sydney University, in conjunction with patient support and advocacy group, Cataract Kids Australia, led by Dr Megan Prictor. The project will include a new collaboration with Associate Professor Michael O'Connor at Western Sydney University. His team has developed innovative ways to grow tiny "micro-lenses" in the lab, allowing researchers to test how specific genetic changes affect lens development.
The team's goal is to ensure that every family that gets a genetic test for childhood cataract receives a clear answer. In the future, it is hoped this knowledge could also lead to better treatments with fewer complications.
