Finding cures for children's genetic diseases

Major Achievements

2014    Identified recruitment of the NuRD-ZNF827 chromatin remodelling complex specifically to telomeres in cells that use ALT. This study demonstrates a critically important multifaceted role for NuRD-ZNF827 at ALT telomeres. 

2013    Defined telomere variant repeat content and telomere maintenance mechanism-specific variant repeat generation in human cells. This study demonstrates a conserved role for variant sequences at human telomeres.

2013    Characterised multiple independent single nucleotide polymorphisms in the TERT locus that associate with breast and ovarian cancer. This study provides definitive evidence for genetic control of telomere length by common genetic variants.
2012    Demonstrated variant repeat interspersion throughout ALT telomeres as the result of homologous recombination-mediated telomere replication. This results in diminished shelterin binding, sequence-specific nuclear receptor binding, and an altered nucleoprotein structure.
2011    Characterised regulated telomere trimming in normal human cells of both germline and somatic origin, demonstrating that telomere trimming is a third mechanism of telomere length control.
2009    Identified a novel telomere length control mechanism termed “telomere trimming”, in which homologous recombination-mediated rapid telomere deletion prevents the persistence of overlengthened telomeres.