Children's Medical Research Institute


Children's Medical Research Institute is an Australian-based independent medical research institute located in Westmead, Sydney NSW that conducts research into children's genetic diseases., current research is focused on cancer, birth defects, neurological conditions such as epilepsy, and gene therapy to treat . CMRI created and continues to operate Australia's Jeans for Genes fundraising campaign.
CMRI was founded in 1958 by paediatricians Sir Lorimer Dods, Dr John Fulton and Douglas Burrows, honorary treasurer and later president of the Royal Alexandra Hospital for Children, to "perform scientific research with a commitment to better treat, and where possible, prevent childhood illness and disability so that all concerned have a better quality of life".
Much of CMRI's cancer research focuses on telomeres and the Alternative Lengthening of Telomeres mechanism, which was discovered at CMRI in 1997. In 2016, CMRI launched an international project to develop a big data approach to personalised, precision medicine called . Seed funding of $10 million was obtained for ProCan from the Australian Cancer Research Foundation, and has since been funded by the Australian Government, NSW State Government and other organisations. The project is now part of the US Cancer Moonshot through and the European project.

Research Laboratories

In 1995 researcher and current director of CMRI, Roger Reddel and his team discovered ALT, a method by which approximately 15% of human cancer cells achieve ‘immortality’ and keep dividing. This work is being pursued with a focus on understanding ALT and developing potential anti-cancer treatments and diagnostic tools.
Other achievements include:
In March 2007, Scott Cohen and his team made a significant discovery in telomerase research by establishing that the enzyme consists of two molecules each of telomerase reverse transcriptase, telomerase RNA, and dyskerin.
In March 2019 Prof Robyn Jamieson lead an international group which identified a novel retinal disorder gene ALPK1 Williams, L.B., etal.. "ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder." Genetics in Medicine. https://doi.org/10.1038/s41436-019-0476-3

Future

the future direction of CMRI was focused on the development of epilepsy treatments that will help children around the world; the development of new treatments for kidney disease and diabetes; gene therapy cures for rare genetic diseases in children; new treatments for infectious diseases; telomere research to help understand predisposition to disease; and to find new and better treatments for every type of cancer.