£150,000 funding awarded for female-focused genetic eye disease research

A funding grant will make progress towards redressing the balance in access to clinical trials between men and women who experience genetic eye disease.

At present, while there are clinical trials for X-linked inherited retinal diseases (IRD), women are often excluded because there is no safety data on the effect of gene therapy in female carriers.

The Centre for Eye Research Australia (CERA) has now been awarded $300,000 AUD (£150,00) from The Felton Bequest to advance research on female carriers of X-linked IRD.

A statement from CERA confirmed that the funding would be used to support two studies: one aiming to establish a clinical test to identify a female carrier’s risk of severe vision loss, and the other will investigate the safety and efficacy of gene therapy in women.

Research lead, Dr Sena Gocuk, highlighted that current treatments are focused on males with X-linked conditions.

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

“I’m so honoured that we’ve received this support from The Felton Bequest. It allows us to explore the questions that remain unanswered for women living with these eye diseases,” she highlighted.

Gocuk highlighted that males with X-linked conditions do not have a functional gene so gene therapy just replaces the gene that is missing.

“But in women, we need to understand how an introduced gene will interact with the existing ones,” she said.

She shared that her motivation for undertaking the research is to help ensure that female carriers have access to the same support and treatment opportunities as men with X-linked IRDs.

“Once I understood the issues carriers were facing, like being dismissed, misdiagnosed or diagnosed too late, I saw there was a need to advocate for these women,” Gocuk emphasised.