The gene therapy that could transform the lives of millions – ABC News

Tegan Taylor: There are a few things in life that are just inevitable; death, taxes, the genes you're born with. At least, that has been the case for pretty much every generation up until now. Gene therapies have the potential to change the trajectory of disease, and I've been talking to two people on the frontline of that shift.

Until about three years ago, Robert Lamberth had a disease that was incurable. I mean, it was literally in his genes.

Robert Lamberth: Not as a newborn, but yes, very, very young when I had my first bleed. Three, I think it might have been for me, back in the early '80s it was, a long time ago now.

Tegan Taylor: When he was born, he inherited a certain recessive gene that stopped his body from producing one of the essential factors you need for your blood to clot.

Robert Lamberth: Bleeding internally into my major weight-bearing joints, so ankles and knees. And as I got older, I'd have more odd bleeding into muscles in my legs and parts of my stomach and those sorts of things, so it was a little bit more serious when you have large muscle bleeds. The pressure of the bleeding can affect your organs, so that's quite serious.

Tegan Taylor: Managing haemophilia A is miles easier than it was a couple of decades ago. When he was little, Robert needed intravenous injections of his missing clotting factor, given in a hospital. When he got older, he didn't need to go to hospital anymore. Regular injections of the clotting factor were a feature of his life all the way through into his 30s. But not anymore.

John Rasko: We dream of cures in gene therapy but hesitate to use the word

Tegan Taylor: For decades, John Rasko has been chasing ways to change people's fates.

John Rasko: For the last 20-plus years we've been doing clinical trials using viral vectors to transfer a gene into humans for a therapeutic purpose.

Tegan Taylor: Professor Rasko is a haematologist and pathologist who spent much of his career studying genes, stem cells and basically how to hack processes inside the human body. And he is one of many scientists around the world trying to figure out ways of swapping out disease-causing genes in a way that, in time, could be used for pretty much any genetic disease.

John Rasko: When we reflect on rare diseases, it's often worth remarking and reminding ourselves that rare diseases of course by definition are rare, usually less than one in 5,000 or 10,000 people, but collectively rare diseases are very common when you add them all up because there are many thousands of them, lead to a burden of disease such as the commonality of diabetes or even some forms of cancer. So the problem is that of all the rare diseases, which some people say are more than 4,000 affecting humans, 80% of those rare diseases have a genetic basis. And of those diseases, only 5% have a specific therapy. So this is an incredible unmet need in human health.

Tegan Taylor: And the solution he and his colleagues have come up with might sound a bit familiar. It works in a similar way to the Covid vaccine made by AstraZeneca. It uses a harmless virus to take a genetic message into the body.

John Rasko: And that vector system is used to then ferry that genetic payload intravenously to the liver where it takes up residence, and hopefully after a single injection, corrects that person's genetic abnormality for the rest of their life. It's unimaginable, but a single injection can alter the course of a genetic disease that would otherwise affect a person from birth to death.

Tegan Taylor: Robert was part of the clinical trial Professor Rasko was involved in, testing the gene therapy.

Robert Lamberth: It would be three years ago now in May 2019 when I had that one single dose of the good stuff, and then that clearly worked its magic and now I'm growing my own factor VIII. I've had one breakthrough bleed.

Gene therapy for me, Tegan, has been quite revolutionary, so from a position of having 0.5% of clotting factor in my blood, I'm now growing my own factor VIII in my liver and I'm at about 15% clotting factor, which is an extraordinary growth.

Tegan Taylor: In August, Europe granted conditional approval for a haemophilia A therapy like the one Robert received. It hasn't been approved in Australia yet, although we do use gene therapy for other conditions, like spinal muscular atrophy, and genetic causes of blindness.

John Rasko: We are only at the very start of this genetic revolution. There are thousands of genetic diseases that affect humans, and we've only just started scratching the surface of where we can go with these gene-based therapeutics.

Tegan Taylor: Because Robert got the gene therapy as an adult, he's still living with the damage haemophilia A had already done to his body, but that doesn't mean it hasn't been transformative.

Robert Lamberth: I can just do so much more. I can be out there doing everything that I love at work and at play and going to the gym, without fear of having a micro-bleed the next day and being cross and crotchety and painful and grumpy at work, and then it turning into a more major bleed and then having to go and seek therapy, which means even more down-time. The sooner that we could roll out some gene therapy for younger people would be great.

Tegan Taylor: Robert Lamberth, who received gene therapy for haemophilia A, finishing us off there. And we also heard from Professor John Rasko from Royal Prince Alfred Hospital and the Centenary Institute at the University of Sydney.

Norman Swan: It's interesting how things have advanced there, Tegan. A few years ago, not so long ago, gene therapy could have been quite toxic because of the virus that they were using to carry the gene in, and you've got to hit the target, it can't be wasteful, and sometimes the virus did harm in its own right. So it's taken a long time to get that right, but the potential, as John Rasko says, is huge and it goes from cancer through to these inborn errors that you get such as haemophilia A.

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The gene therapy that could transform the lives of millions - ABC News