Until recently, ten or twelve babies born in the ACT and NSW died of a disease known as spinal muscular atrophy before they reached their second birthdays. Children’s Medical Research Institute director Professor Roger Reddel says children born with spinal muscular atrophy (SMA) were often healthy for a while and then began to regress. “Even if they’ve got to the point of being able to walk, they end up losing the ability to move their major muscle groups and unable to swallow or breathe,” he says.
After the potential for gene therapy as a treatment for spinal muscular atrophy was found, staff at the Institute persuaded the NSW health department to include the disease in the heel prick test administered to all babies at birth. If a diagnosis of SMA is confirmed a child can have a single infusion of gene therapy, administered via drip. “Children who have been treated now, they’re way past the second birthday,” Reddel says. “We think their life expectancy might be normal now.”
International collaborative scientific research has discovered how to use gene therapy to treat a range of fatal childhood diseases, and the Children’s Medical Research Institute, located in the Westmead Health Precinct, has been at the forefront of the work for many years.
One in 20 children is born with an inherited disease or birth defect. Reddel says research on gene therapy for inherited diseases has been underway at the Institute for 30 years and there have been some major advances in the last five years or so. He believes cell and gene therapy will also suit many aspects of adult medicine.
Importantly, he believes these gene therapy advances, including the signal success with spinal muscular atrophy, has galvanised research in the field. “It’s been a huge amount of work to get to this point,” he says, adding that when the Institute began researching gene therapy, many scientists were dubious, thinking the practicalities of delivering gene therapy to a patient were just too difficult.
“It was impossible to get competitive government funding because people basically thought it was all too hard,” he says. Now, the success speaks for itself: the method for delivering gene therapy to babies with spinal muscular atrophy is technology that Institute scientists have been helping to develop for 30 years.
As well as gene therapy, Institute researchers are working on telomeres, the structures that age at the end of every chromosome – research which is relevant for childhood cancers. “The focus of our telomere research is on understanding how cancer cells reverse that ageing process so the cells can proliferate relentlessly, which is what happens in cancers,” Reddel says.
The Institute works closely with partners in the Westmead Health Precinct. “I regard the collaboration in this precinct is really quite exemplary,” Reddel says, adding the Institute cooperates with Children’s Hospital next door, and the Westmead Institute for Medical Research which is also nearby. Other Precinct partners include CSIRO, the University of Sydney, and the Institute of Clinical Pathology and Medical Research.
“Most of the lab research is within a few adjacent buildings, and it means we’re able to share major equipment and techniques,” Reddel says. “There’s a tremendous amount of collaboration which has been happening for over 20 years now. And it really works very well.”
Financial Review