Sena Gocuk receives the Dean’s Award for Excellence for her work on X-linked inherited retinal disease

Congratulations to Sena Ayse Gocuk on receiving the Faculty of Medicine Dentistry and Health Sciences Dean’s Award for Excellence in Graduate Research. This award, valued at $1000, recognises outstanding achievements by Graduate Researchers across the Faculty.

Sena headshot

Sena’s research

It has previously been a misconception that female carriers of X-linked inherited retinal diseases (IRD) didn’t show symptoms. Further, many women with severe retinal disease were misdiagnosed as having dominantly inherited disease. However, the growth of genetic testing has shed light into variability in X-linked IRD severity in female carriers, ranging from near normal retinae to severe degeneration. Some women will become blind from these conditions, but we are currently not able to predict who is at most risk.

The recent approval of the first FDA-approved retinal gene therapy has led to emerging treatments for many more eye diseases, such as X-linked retinitis pigmentosa and choroideremia. Sena’s PhD aims to characterise the retinal disease spectrum of female carriers of X-linked IRDs and to identify new clinical biomarkers. This enables clinicians to predict which women are most at risk of vision loss, and thus prioritise them for upcoming treatment trials to slow or prevent losing vision. Importantly, Sena’s PhD also focuses on capturing the perspectives of female carriers of X-linked IRDs, genetic testing and future treatments, to ensure true co-design of future research.