Finding cures for children's genetic diseases


Major Achievements

2011 SOX2 mutation associated with isolated infertility. Individuals with mutations in SOX2 usually have severe eye anomalies and some also have pituitary abnormalities. This was the first recognition that mutation in SOX2 may cause pituitary abnormalities and infertility, even in the absence of eye abnormalities. Article.
2012 Unique Australian eye disease family found to have a novel mutation in TUBB2B. The eye and brain phenotype in this family pinpointed the divergent roles of ß-tubulin subtypes in microtubule dynamics and axon guidance.  Article.
2013 Whole exome sequencing successful for disease gene identification in developmental eye disease. These eye disorders are markedly genetically heterogeneous and our study demonstrated the value of whole exome sequencing for genetic diagnosis in these conditions. Article.
2014  Australian families with balanced structural variants lead to novel candidate disease gene identification in cerebral and other disorders. A mate paired whole genome sequencing strategy was undertaken with our Genome Institute of Singapore collaborators, and novel candidate disease genes identified that may contribute to schizencephaly and developmental delay. Article In Press.