Lions Eye Institute (LEI) researcher Dr Di Huang has won a AU$60,000 (NZ$64,334) Retina Australia grant to boost her research into Identifying and characterising ABCA4 variants in patients with Stargardt disease.
The primary focus of Dr Huang’s research will be the development and testing of splice-switching antisense oligonucleotide (SS-AON) drugs. “Unlike some gene therapies, SS-AONs act as temporary modifiers for the gene without making permanent changes to DNA, potentially enhancing safety,” she said.
Using skin cells from the Western Australian Retinal Disease (WARD) Study biobank, Dr Huang and Associate Professor Fred Chen will also use advanced molecular techniques and comprehensive analysis of aberrant splicing patterns to identify mutations. This will help in early diagnosis of the disease and give patients better access to clinical trials, said LEI.
