Genetics, Genomics and Transcriptomics Research

The Genetics, Genomics and Transcriptomics Research Group takes a multidisciplinary approach to understanding human disease, using modern bioinformatic techniques combined with traditional genetic analysis to unravel the complex interactions of genetic variants that determine susceptibility to disease.

The group is undertaking a number of studies of human genetic disease, including the cancer susceptibility condition Gorlin syndrome and its severe manifestation in 9q23 deletion syndrome. We are also working with patients who have glutaric aciduria type 2, a metabolic disease that means people cannot process fats to provide energy to cells. We have a strong interest in Marfan syndrome and related conditions where abnormality of the connective tissue around cells can cause heart failure, eye problems and skeletal overgrowth.

One focus of the group is to assist others with the analysis of large datasets generated by the new DNA and RNA sequencing technologies. We work closely with the Macrophage Biology group (Hume and Irvine) who are using rat and mouse strains to model human diseases resulting from abnormalities of a class of immune cells called macrophages. These joint studies are currently funded by an NHMRC grant.

Group Members

Dr Omkar Patkar (joint with Macrophage Biology Group)


Jennifer Stables

Dylan Carter-Cusack


Professor David Hume and Dr Kate Irvine (Mater Research Macrophage Biology Group)

Dr Adam Ewing (Mater Research Translational Bioinformatics Research Group)

Dr Jim McGill (Mater Health and Queensland Children’s Hospital)

Dr Kalliope Dimitriou (Westmead Children’s Hospital)

Professor Raoul Muldar (University of Melbourne)

Professor Paul Pavli (Canberra Hospital)

Dr Claire O’Brien (University of Canberra)

Professors Brendan Corcoran and Dylan Clements (University of Edinburgh

Group Leaders