Feature, Soapbox

Building Australia’s gene therapy capability

The rapidly evolving field of gene therapy offers a unique opportunity for Australian eye surgeons and scientists to join forces and lead the world in preventing blindness.

Until recently, patients with inherited retinal diseases and conditions with more complex genetic risk factors like dry AMD had no hope of a cure. Now gene therapies are offering real prospects of saving and restoring sight.

With the approval of Luxturna to treat Leber’s Congenital Amaurosis – and 40 clinical trials for various conditions under way globally – it’s an exciting time for patients, clinicians and scientists.

I’m part of a team from the Centre for Eye Research Australia (CERA) and Royal Victorian Eye and Ear Hospital delivering an Australian first clinical trial of an investigational gene therapy for dry AMD.

So far, we’ve delivered the investigational treatment – administered by sub-retinal injection – to three patients. The surgical technique involves using a canula as thin as a human hair to deliver 0.01 ml of fluid containing viral particles filled with the corrective gene underneath the retina.

In Australia, there are only a handful of surgeons experienced in delivering ocular gene therapies.

Here in Melbourne that includes Associate Professor Penny Allen, the head of vitreoretinal surgery at the Eye and Ear, who is also well known for her work on the bionic eye – and me.

I studied medicine at the University of Tasmania before completing my PhD at the University of Cambridge and then ophthalmology training at the Eye and Ear. In 2014, I was extremely fortunate to receive a Nuffield Scholarship from the Australian Academy of Sciences to study with renowned vitreoretinal surgeon and gene therapy researcher Professor Robert McLaren at Oxford University. My training included being part of a world- first gene therapy trial for choroideremia – an opportunity that kick-started my interest in retinal gene therapy research.

As the existing pool of experienced retinal gene therapy surgeons attract more trials to Australia, we will be able to offer similar training opportunities to aspiring surgeons at home. This will create a self-perpetuating cycle where our growing capabilities will enable us to attract more trials, in turn creating more opportunities for our surgeons to upskill and improve the standard of care.

One of the beauties of clinical research is the positive knock-on effect it has across the health system as more clinicians are exposed to innovative practices.

The team at the Eye and Ear and CERA involved in the current trial also includes theatre staff, orthoptists and optometrists – all of whom are learning new skills and taking them into practice.

But surgical skill is only one part of the equation to bring more gene therapy trials to Australia and support local scientists to develop therapies at home rather than overseas.

We need essential clinical infrastructure, strong partnerships between clinician and basic scientists, close links with industry sponsors and ready access to patients with a genetic diagnosis to participate in trials.

The collaborative relationships here in Melbourne provide a great example of Australia’s potential to become a world leader in ocular gene therapy. We have a specialist eye hospital in the Eye and Ear, a world top-five eye research institute in CERA and the nation’s highest concentration of biomedical researchers and biotech companies.

The combined skills of the teams at CERA and the Eye and Ear were instrumental in attracting the current AMD trial to Melbourne, and providing local patients with access to a potentially life-changing treatment. The Eye and Ear’s state-of-the-art new surgical facilities, including advanced microscopy equipment essential for retinal gene therapy surgery, have also been critical.

But no matter how good our facilities, research, or technical skill – we can’t build Australia’s gene therapy capabilities without forging strong links with patients.

Again, Melbourne is uniquely positioned in this regard as home to Australia’s only one-stop Ocular Genetics Clinic at the Eye and Ear. I’m proud to be part of the team at the clinic, which includes genetic counsellors, clinical geneticists, orthoptists and ophthalmologists to diagnose patients with genetic eye diseases and support them.

We love this work, and a great achievement is being able to link patients with trials or treatments. With the developments in ocular gene therapy research, it’s heartening there’s hope on the horizon for some patients.


Name: Dr Tom Edwards
Qualifications: MBBS, PhD (Cantab), FRANZCO
Organisation: CERA, Royal Victorian Eye and Ear Hospital, University of Melbourne
Position: Principal investigator retinal gene therapy, vitreoretinal surgeon
Location: Melbourne
Years in the profession: 12

More reading

Gene therapy trial for dry AMD under way in Australia

TGA approves Luxturna gene therapy

Aussie IRD study taps into gene therapy perceptions

Aussie professor’s gene therapy technique improved ‘optic nerve activity’

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