Finding cures for children's genetic diseases


Major Achievements

1988 Cancer Research Unit formed at CMRI. Goal: to understand cancer cell immortalisation in sufficient detail to find new cancer therapies.
1995  Discovered Alternative Lengthening of Telomeres (ALT) mechanism of telomere maintenance in cancer, opening up a new field of research.
1999 Found diagnostic marker for ALT, called APBs. Also showed that unknown factors in normal cells can repress ALT cancers.
2000 Demonstrated that ALT involves DNA recombination. First in the world to show this underlying mechanism.
2007 First in world to identify the composition of active telomerase enzyme complex in human cells.
2009  Developed C-circle assay for measuring ALT activity in cancer. Discovered telomere trimming mechanism that could one day be exploited to target and kill cancer cells.
2011  C-circle assay licensed for research use as a test for ALT cancers. Also determined the number of ‘frayed’ telomere ends needed to signal senescence or cell aging.
2012 Involved in international Starr Consortium study identifying key genetic change (loss of ATRX) in ALT.
2013 Demonstrated that ALT has a normal counterpart in mouse cells,  which also provides a new model system for studying the ALT mechanism.
What’s Next Extend the utility of the C-circle assay for diagnostic use and to screen for ALT inhibitors. Study key ALT proteins to reveal potential therapeutic drug targets.