We care about rare

“Right now, there are unparalleled opportunities for gene therapy research to provide sick children with a better future.” – Professor Ian Alexander, Gene Therapy Research Unit Head, CMRI

Today, we have some exciting news. Our Gene Therapy Unit, which is a joint initiative of Children’s Medical Research Institute and the Sydney Children’s Hospital Network, have developed a new therapy, which cures genetic liver disease in mice.

The Gene Therapy Unit is headed by Professor Ian Alexander, who is a medical research scientist and treats sick children as a clinical paediatrician at the hospital.

Ian and his laboratory team want to take a critically important step towards clinical trials of this therapy in children.

There has been a revolution in genetic knowledge over the last 20 years. The information that has been amassed has led to unprecedented advances in our diagnostic ability. Serious genetic conditions that were previously a mystery to doctors can now be accurately diagnosed, but development of treatments for these conditions has not kept pace. In fact, the gap is widening, leading to the heartbreaking situation where doctors increasingly have to tell patients that they know what is wrong but have no effective treatment.

Professor Alexander became interested in genetics during his paediatric medical training, and ever since that time he has been single-mindedly pursuing a program of research to find new treatments for genetic diseases. The Gene Therapy Unit, under his direction and in collaboration with researchers in Europe, was the first Australian team to treat a genetic disease (SCID-X1 or ‘boy in the bubble’ disease) by gene therapy. With this treatment, collaborating researchers have changed the lives of 19 children who now have functioning immune systems, and who now can touch their mothers, fathers, sisters and brothers without the risk of a life-threatening infection.

A single treatment, which we expect will last a lifetime.

So we know gene therapy can work. Now we are nearly on the threshold of offering the same hope to babies with the genetic liver disease ornithine transcarbamylase (OTC) deficiency. Children with this condition suffer a build-up of toxins, which can be extremely damaging. The current state-of-the-art treatment strategy for these babies is to try to keep them as well as possible until they have grown enough to cope with a liver transplant. Organ transplants are a major medical advance and can be life-saving, but a child with a donated organ can face a difficult life with the risk of organ rejection and all the risks of immune suppression. And a transplant is not always possible. A cure for this genetic condition would be so much better.

Gene therapy is no overnight success, but all that stands now between children with OTC deficiency and a cure is money and hard work. As Professor Alexander says,

“People think of science in terms of breakthroughs, whereas in reality progress is usually made in small, incremental steps, which are usually difficult and require painstaking work.”

The next stage for these children is a clinical trial. To get to this point, the researchers need to modify the treatment that they have proved works in mice with genetic liver disease so that it is suitable for babies. Gene therapy uses molecular machines, which are so small that an electron microscope is needed to see them, to deliver a healthy version of the patient’s faulty gene into the right cells in the body.

The molecular machines that work best for mouse liver cells will need to be modified to perform at suitably high efficiency in human liver cells.

This is the next big step towards achieving successful gene therapy of children with OTC deficiency, which will pave the way for treating many other types of genetic diseases which can be life-threatening or seriously disabling.

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