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 Research 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. It is also working with patients who have glutaric aciduria type 2, a metabolic disease that means people cannot process fats to provide energy to cells. The Group has 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.
An area of research focus is to assist others with the analysis of large datasets generated by the new DNA and RNA sequencing technologies. The Group works closely with the Macrophage Biology Research Group 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 Leader
Group members
Professor Kim Summers is supported by group members, student researchers and collaborators:
- Dylan Carter-Cusack
- Professor David Hume and A/Prof Kate Irvine (Macrophage Biology Group)
- A/Prof Adam Ewing (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)
