Can you give me information on a specific genetic disease?

The Children's Medical Research Institute (CMRI) conducts fundamental genetic research to understand the genes involved in human health and development.

We say that our research is "basic" meaning that we are looking at the very origins of disease. In this respect we work in the opposite direction to many researchers, who start with a specific disease and work their way down to its cause. At CMRI we start with biological mechanism and then endeavour to fully understand that mechanism so that better treatments or cures for a range of genetic diseases can be developed.

Although our research is focussed in four major areas - embryonic development and birth defects, cancer, nerve cell signalling, and gene therapy – because much of our work is on the basic blueprints of health and the fundamental causes of disease, it has the potential to shed light on a vast number of different diseases.

If you would like to make a donation to our research, please click here.

We are always interested in hearing about how your life has been affected by childhood illness and may be able to help you tell your story to a wider audience. Please contact the Science Communications Unit on info@cmri.org.au or 9687 2800 to share your story.

For more information on a specific genetic disease, please contact the Centre for Genetics Information.

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