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What is Gene Therapy?

Often called 'the Medicine of the Future', gene therapy is a reality today and offers hope for thousands of genetic diseases

What is Gene Therapy?

Often called 'the Medicine of the Future', gene therapy is a reality today and offers hope for thousands of genetic diseases

1 in 20 kids face a birth defect or genetic disease.

With over 6,000 different known genetic diseases – most of which are poorly understood and have no specific treatments or cures – research is more important than ever. Watch the video below to see what we can do.

CMRI hosts two world-leading researchers in the field of gene therapy: Professor Ian Alexander and Dr Leszek Lisowski. They and their teams are not only developing cures for genetic diseases, but they are also advancing gene therapy technology globally, while working to ensure that gene therapy can be used to cure even more genetic diseases within Australia.


What Causes A Genetic Disease?

Genetic diseases are caused by errors in our DNA, the instructions for making ‘us’. DNA is the source of information for all the cells in our body, telling them what to do every second of every day.

When something goes wrong with those instructions, it means some part of our body doesn’t function properly, leading to a life-threatening genetic disease like cystic fibrosis, muscular dystrophy, metabolic disorders or even cancer.

The best way to treat or cure many of these conditions is to correct the problem at the source, to correct the DNA. That’s what gene therapy does.


How Does Gene Therapy Work?

A gene with the correct DNA information is inserted into a vector (usually one called AAV), which is harmless but functions as a delivery vehicle that can go into the cells of a patient to correct the DNA information and restore normal function. This is already being used to treat diseases like haemophilia and spinal muscular atrophy.

More advanced technology being developed goes a step further, equipping these AAV vectors with the ability to scan billions of letters of the genetic code, find the single error causing a genetic disease, and precisely correct it in the patient’s DNA. In this case, instead of just being a delivery vehicle, the AAV acts like a microscopic scalpel, performing surgery on the DNA to cure a genetic disease.


How Are We Making A Difference?

Currently, AAV works well with blood and liver diseases, but Dr Lisowski’s team at CMRI is advancing AAV technology, developing vectors that work in muscle, brain, retina and other organs to cure even more types of genetic diseases.

The scientists and clinicians at Children’s Medical Research Institute conducted the first ever clinical trial to correct a genetic disease using gene therapy in Australia (SCID-X1 deficiency or "boy in the bubble disease"). They were also the first outside North America to trial a cure for spinal muscular atrophy, and a gene therapy we’ve developed in Australia for metabolic liver disease is entering clinical trials in the UK. Right now, we are working on a cure for Propionic Acidemia and other previously incurable genetic diseases.

We are also spearheading a national effort to improve access to gene therapy by ensuring more clinical trials developed overseas are brought to Australia as quickly as possible. Our vision is to create Australia’s first large scale vector manufacturing facility, eliminating years of waiting time for overseas vectors and making clinical trials more affordable. This means helping Australian children facing genetic diseases to receive the treatments and cures they desperately need. All donations made to Jeans for Genes go directly to Children's Medical Research Institute to support this kind of work.

With one simple injection, these kids can be cured—no surgery, no long-term treatment plan—and that’s a vision worth realising.