Gene Therapy Research Unit
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The Gene Therapy Research Unit, a joint initiative with the Children's Medical Research Institute, focuses on the development of novel gene-based strategies for the treatment of genetic conditions affecting children. This is a tremendously exciting but challenging area requiring both laboratory and clinical research expertise.
The key challenge is to safely repair or replace faulty genes with healthy ones in a sufficient number of cells to achieve therapeutic benefit.
Our approach involves the use of cutting-edge gene delivery technologies (vectors) derived from viruses and begins with genetic repair of isolated cells growing in cell culture followed by treatment of disease in small animals such as mice.
The liver and bone marrow are two particularly promising targets for gene therapy as many childhood genetic diseases involve these tissues.
Our research progress remains strong in all areas, as reflected in continued success in attracting competitive funding from the NHMRC and the publication of our work in the scientific literature.
Over the last year we have made particularly strong progress towards the translation of therapeutic success in mice through to human clinical trials. Having previously reported the successful life-long cure of mice with the urea cycle defect ornithine transcarbamylase (OTC) deficiency, we have now successfully generated mice in which a high proportion of liver cells are of human origin. This has allowed us to begin tailoring our gene transfer technology for the genetic repair of human liver cells and proving that full urea cycle function is recovered.
We have also developed an exciting shRNA–based approach for inducing severe OTC deficiency that has allowed us to produce mice with high ammonia levels in the blood. This in turn has allowed us to better model the therapeutic challenge of treating infants with urea cycle defects, where bringing high ammonia levels down is fundamentally important.