Research

"Today's research is tomorrow's medicine."
Prof Peter Gunning, Chair, Division of Research

The Kerry Packer Institute for Child Health Research

Welcome to the Division of Research

The Hospital's multi-disciplinary research teams provide a unique opportunity for children and adolescents (and often the patient's family) to be involved in a two way interaction between the doctor and the researcher. The real life setting offers the optimum process to develop, test and implement new treatments as well as discover new cures and prevent diseases from occurring.

There are more than one hundred members of the research team at the Hospital, with many national and international collaborators. As a direct result of past research, there have been significant advances by the Hospital in the development of treatments, cures and prevention of diseases, which have benefited numerous children with cancer, diabetes, kidney, heart and respiratory problems.

Recent outstanding achievements include a better understanding of muscle disorders such as muscular dystrophy, the development of Australia's first Gene Vector Laboratory (a leading step in gene therapy) and the establishment of a tumour bank to facilitate cancer research.

The number, mix and proximity of its patients makes The Children's Hospital at Westmead the preferred location for many collaborators including The University of Sydney, The Children's Medical Research Institute, The University of Western Sydney, The Garvan Institute and other national and international institutions.

For further information, please call Anne O'Neill, Research & Development Manager, on 9845 1316.

Case Study

The navigation button for the Research website area features Jaxon McInerney.

Jaxon was born with severe limb contractures and required intensive orthopaedic and physiotherapy management in the first few years of life. A number of diagnoses were considered early on, but the correct diagnosis of Marfan syndrome was made by a geneticist when Jaxon was almost five years old. Jaxon's mother, an excellent historian, gave the geneticist some important clues, particularly when she told her how his eyes seemed to "shimmer", a feature that she had noticed in Jaxon from early in life.

Further clinical investigations were undertaken to facilitate Jaxon's diagnosis. These included an ophthalmological examination and an echocardiogram. Jaxon was shown to have dislocation of the lenses of the eyes and an aorta that was very dilated for his age. Both are classic findings of Marfan syndrome.

Jaxon was seen by Dr Lesley Ades, Head of the Marfan Research Group (MRG). The diagnosis and its implications were discussed in detail and a management plan was put in place. The MRG was able to define the FBN1 gene mutation responsible for Jaxon's Marfan syndrome.

Jaxon had prophylactic surgery by Dr Nunn at eight years of age to replace the dilated aorta. Five years later he underwent a posterior spinal fusion and insertion of rods into his spine, with an excellent result regarding his scoliosis (curvature of the spine). Several months later Jaxon had his second aortic surgery which involved the placement of a prosthetic aortic valve and aortic graft. Again, a great result was observed and Jaxon is currently enjoying good health.

Correct diagnosis and treatment should allow patients with Marfan syndrome to have a normal life expectancy. "Jaxon was able to have the operation and it saved his life," Mrs McInerney said. "Now he is fit and healthy and has the most stamina he has ever had. It's made a remarkable change to his whole life."