A gift of $300,000 from The Felton Bequest will power Dr Sena Gocuk’s research into female carriers of inherited retinal diseases (IRDs) for three years.

Dr Gocuk will be undertaking projects that aim to develop tests to identify a carrier’s risk of severe vision loss and the safety and efficacy of gene therapy for these women.

This includes the development of a saliva test to reveal how genes are being expressed. 

“Treatments are currently focused on males with X-linked conditions,” says Dr Gocuk. 

“What we’re trying to find out is whether the treatment available for men in current clinical trials will work on women as well.” 

X-linked IRDs are caused by a gene mutation on the X chromosome, which will typically develop severe vision loss for males, who have one X chromosome. 

Female carriers of X-linked IRDs who have two X chromosomes – one mutated and one healthy – can still experience vision loss though the severity and changes are not as well understood as they are in males.

“I’m so honoured that we’ve received this support from The Felton Bequest,” says Dr Gocuk.

“It allows us to explore the questions that remain unanswered for women living with these eye diseases.” 

This story was originally published in Share our vision: Annual Review 2024.