Characterising Stargardt Disease Mutations for Splice Intervention Therapeutics
Chief Investigator – Dr Di Huang, Lions Eye Institute, Perth
- This is a new project that aims to find a treatment for Stargardt disease, an inherited genetic eye condition caused by mutations in the ABCA4 gene.
- The project plans to study the specific genetic changes in ABCA4 that lead to the disease.
- It also aims to try to develop a type of treatment called splice-switching antisense oligonucleotides (SS-AONs).
Virtual Reality Assessment of Functional Vision in achromatopsia and albinism
Chief Investigator – Dr Elisa Cornish, Save Sight Institute, Sydney
- National regulatory authorities will not recognise and support successful gene therapies if measurable improvements or slowing of natural history of degradation are not demonstrated.
- Evaluating clinical trial success for inherited retinal diseases can be challenging due to slow vision changes. Alternatively, mobility improvements may provide an indicator of treatment efficacy.
- This project aims to assess whether a virtual reality (VR) mobility and environmental background lighting assessment tool can pick up changes in functional vision and light sensitivity in patients with Achromatopsia to be used for measuring clinical trial success of new developing treatments.