‘It means everything’: How Melbourne scientists are fighting to save Poppy’s sight

When Poppy Stevens was just a few months old, she received a devastating diagnosis.

After failing her newborn hearing test, genetic testing confirmed the little girl had Usher syndrome, which meant she might also lose her vision.

“It was a second wave of devastation,” reflects her mother Ali Stevens, who lives in Melbourne’s south-east.

“Suddenly I’m thinking, ‘is my child going to be blind?’ We were going through the worst-case scenarios … Is she going to work? Is she going to drive? Will this make it harder for her to have a family? Is she going to live with us for the rest of her life?”

A team of Melbourne researchers is determined to alleviate these anxieties and provide a cure for the vision loss faced by children like Poppy, who is now five and uses a hearing aid.

Usher syndrome is the primary cause of deafblindness in Australia and impacts about one in 6000 children. Children are typically born with hearing loss, and then progressively lose their vision during their adolescence and early adulthood.

At the Centre for Eye Research Australia, managing director Professor Keith Martin and Professor Guei-Sheung (Rick) Liu are creating a treatment called EDITRA that aims to correct the tiny spelling mistake in a person’s genetic code that causes Poppy’s variant of Usher syndrome, type 2A.

The project, developed by the centre’s new spin-out company Adara Bio, overcomes a major barrier to treatment for patients with Usher syndrome, whose mutated genes are too large to fit into current gene therapies.

By fixing the cell’s genetic instructions (known as its RNA) instead of replacing the large gene that causes the syndrome, the treatment fits inside a single modified virus that is injected into the eye.

As part of the next week’s Melbourne Assembly civic forum, The Age has been exploring big ideas for the future of the city, including how to maintain and enhance Melbourne’s status as a global leader in medical research and innovation.

Martin, who is also chair of the Association of Australian Medical Research Institutes Victoria, left his job at the University of Cambridge and moved to Melbourne seven years ago because he was attracted to the city’s “biotech ecosystem”.

“Melbourne’s cluster of medical research institutes, universities, industry and the start-up ecosystem is really attractive,” he said.

He says the city rivals Boston and London as one of the world’s top research destinations, with its medical research institutes employing more than 7500 people and delivering more than $600 million to the state’s economy every year.

This eclipses the annual economic benefit of the Australian Open ($566 million) and the Grand Prix ($350 million).

But the sector is not without its problems.

Martin warns that Victoria risks losing its edge as a global biotech hub without stronger state and federal investment and more local manufacturing facilities.

“There’s sometimes a complacency from the Victorian government that we’re world leading and will remain world leading,” he says. “Unless we support this with more funding, we’re going to lose our preeminence within Australia and globally. It’s not easily recoverable.”

Modelling commissioned by the peak body indicates that without a significant funding increase, 10 of the state’s 14 independent medical research institutes will be at risk of closure by 2030. They receive their funding from federal government grants, philanthropy, commercial activities and the state government.

Last month, The Age revealed the 66-year-old Hudson Institute of Medical Research would stop operating independently and cut at least 75 jobs.

Victorian Minister for Medical Research Anthony Carbines said at the time that the government had increased funding for the state’s research institutes by $24.6 million over two years, with more than $47.7 million flowing to the sector last financial year. This, he says, is the largest amount of funding for indirect research costs provided by any Australian state or territory.

Despite these funding concerns, ground-breaking research continues.

Martin and his team are testing their treatment for Usher syndrome on miniature eye models they have grown in a lab. They hope to start clinical trials within three years.

The technology has the potential to fix other inherited retinal diseases, including genetic forms of macular degeneration.

“It’s beautifully controllable, it’s like molecular surgery,” Martin explains. “We can very precisely change the gene to correct those errors.”

The research has provided hope to the Stevens family.

“It could completely change Poppy’s future,” Ali says. “Instead of planning for her going blind, our plans can be about where we are going to travel and what we are going to do together. It means everything.”

Just a few blocks away from the lab where scientists are working on a treatment for Usher syndrome, a young man with electrodes strapped to his shaved head recites a series of nonsense sentences in a Faraday room, which blocks electromagnetic fields.

“These days chicken leg is a rare dish,” Jay Marinis says from the carpeted room in the Aikenhead Centre for Medical Discovery, which is co-located at St Vincent’s Hospital Melbourne and accelerates the commercialisation of medical and health research.

“A zestful food is a hot cross bun.”

Marinis is being paid $40 an hour to read these sentences aloud, then mouth them and then think them. It’s all in the name of research – he’s helping a team of Melbourne scientists and entrepreneurs create a device called Fluent that translates what a person intends to say from brain signals into communication.

If the innovation kicks off, it would transform the lives of 100 million people around the world who have lost the ability to speak or have a profound speech deficit. This includes people with throat and mouth cancer, cerebral palsy, Motor Neuron Disease, Parkinson’s, non-verbal autism and those who have suffered a stroke.

While the device might seem like the stuff of science fiction, Dean Freestone, the co-founder and chief technology officer of Fluent, aims to launch it in 2030.

“The device goes under the skin and is completely invisible – similar to a cochlear implant,” he says, referring to bionic ear which was developed at the University of Melbourne in 1978.

“It’s inserted through a small incision, unfurls under the scalp, and can be done in an outpatient clinic in 20 minutes.”

While the project has an ambitious timeline, many years of research underpins it.

Freestone previously helped create a device that is implanted beneath the scalp’s surface which predicts seizures among patient with epilepsy. Within the space of eight years, the Epiminder device went from basic research through to regulatory approvals and is now available in the US.

With the assistance of artificial intelligence, researchers discovered that the brain measurements detected by this technology could also be used to decode intended speech.

“It’s not reading your background inner monologue,” Freestone says. “It’s the signals that go from our brain to our speech muscles.”

While Freestone views Melbourne as a world-class clinical research hub, he says it’s constrained by a small local market and a lower appetite for risk among investors.

“It’s just chalk and cheese compared to Silicon Valley,” Freestone says. “Australians want to invest in things that are going to have an expected return within a few years, whereas a medical device will take longer.”

Melbourne Assembly will be held from October 19 to October 21. More information is available on the Melbourne Assembly website.