Our Research

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.  With one simple injection, these kids can be cured - no surgery, no long-term treatment plan - and that's a vision worth realising.
Watch the video below to see what we can do.

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.

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.

How Are We Making A Difference?

The scientists and clinicians at Children’s Medical Research Institute conducted the first ever clinical trial for 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.

Right now, we are working on gene therapy to find cures for previously incurable genetic diseases, like Propionic Acidemia and OTC-deficiency.

We are also spearheading new gene therapy initiatives to fill the gaps in Australian medicine. We want to ensure children facing genetic diseases go from diagnosis to cure, and that those cures are affordable and available right here at home.

Your support of Children’s Medical Research Institute by participating in Jeans for Genes makes all this and more possible.