Dr Anai Gonzalez-Cordero's research aims to restore sight in people with inherited retinal diseases, by repairing or replacing damaged photoreceptor (light-sensing) cells in the eye.
She has already shown that she can grow cultures of healthy photoreceptor cells in a dish in the lab and then use the cells replace the defective cells and restore sight in laboratory models of hereditary blindness. And she has shown that gene therapy can repair diseased human retinal cells grown in the lab as ‘mini-organs’ (or ‘organoids’), providing them with normal light-sensing ability.
Her $55,000 Metcalf Prize will contribute to developing systems to progress both concepts towards clinical trials. She is based at Children’s Medical Research Institute (CMRI) in Western Sydney.
Dr Anai Gonzalez-Cordero. Credit: Children’s Medical Research Institute
More than 16,000 Australians live with an inherited retinal disease, a broad group of genetic eye conditions. These conditions cause blindness in nearly eight million people worldwide and can occur from birth through to late adulthood. Vision loss occurs due to a ‘spelling mistake’ in the genetic code that causes cells of the eye to malfunction.
Until recently, newly diagnosed patients and their families were told to expect progressive vision loss for which there was no treatment or cure.
Working at University College London, Anai learnt to grow stem cells and direct these to become retinal organoids (laboratory-derived ‘mini-organs), which are small, functional colonies of photoreceptor cells.
Now at CMRI in Australia, she is using this stem cell technology in two ways.
The first is to determine which retinal cell genes are faulty and replace them with versions that are functional, using gene therapy. Anai and her team plan to use patient-derived organoids to study how viruses can be employed to smuggle healthy copies of genes into diseased retinal cells to replace the genetic fault.
Her second approach uses healthy photoreceptors – the retinal cells that detect light – obtained from stem cells, to replace cells that are diseased. This approach could become a universal cell therapy for many types of inherited blindness caused by the loss of photoreceptors.
A crucial part of the work will investigate how electrical stimulation can be employed to ‘kick-start’ transplanted retinal cells into making connections with each other and the brain.
Anai says the Metcalf Prize will help her accelerate her ambitious research program.
“Stem cell technologies are already revolutionising basic and translational medicine,” she says. “I aim to use and develop this technology to its full potential to enable advanced therapies to reach the clinic in Australia, and offer real opportunities to patients to be involved in trials developed locally.”
Anai was a speaker and panellist at the 'Gene therapies and stem cell research: now and in the future' public forum, held at the State Library of Victoria in conjunction with the Australasian Society of Stem Cell Research 2022 Annual Scientific Meeting.
Watch a video of her presentation in which she shares how gene and cell therapies can be used to correct faulty genes and/or treat inherited eye conditions, such as Stargardt disease and Usher syndrome.
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