I am the Director of the Garvan-Weizmann Centre for Cellular Genomics, and Director of the UNSW Cellular Genomics Futures Institute. I obtained my PhD from the University of Edinburgh, in 2010. Following my PhD I moved to Professor Peter Visscher’s (FRS, FAA) group at QIMR, and then the University of Queensland. During this time, I helped form and lead an international consortium to study the genetic control of gene expression, the Consortium for the Architecture of Gene Expression (CAGE). In 2015, I started my own group at the Institute for Molecular Bioscience, where we pioneered the use of single cell sequencing methods to understand the genetic control of disease, and cell development. I am also a founding director of SeqBio, a company developing new diagnostic technology for lung diseases using liquid biopsies and single cell sequencing.
Within GWCCG and the UNSW Cellular Genomics Futures Institute I head the Computational Genomics Laboratory, whose research is focused on demonstrating the genomic mechanisms by which loci contribute to complex human diseases, and working towards early stage diagnosis methods and targeted therapeutics. To do so, we apply existing computational approaches, and develop our own statistical genetics methods for analysis of large-scale next generation sequencing data. Following in silico experiments, we perform functional validation of statistical observations using molecular techniques such as high-throughput genome editing and cell phenotyping. We have a very significant focus on the use of single cell sequence data and technology, due to the phenomenal resolution it offers in being able to identify differences in the genomics processes between individual cells. The laboratory drives projects in a number of areas of medical genomics research, but we also believe strongly in the value of collaboration between groups with differing expertise.