Major Research Interests

  • NATA accredited Next Generation sequencing for the diagnosis of mutations in the inherited cancer genes BRCA1 and BRCA2, and a range of more than 30 additional genes that have been associated with an increased risk of cancer.
  • Whole-exome DNA sequencing and its applications for investigation of intellectual delay, epilepsy and severe immunodeficiency.
  • Design and development of models for genetic testing and screening entire communities, to allow for prediction, detection and prevention of serious inherited conditions.

Research Staff

Dr Michael Buckley (Clinical Director)

Prof Edwin Kirk

A/Prof Tony Roscioli

Dr Ying Zhu

Dr Rebecca Walsh

Recent Grants

2016-2020 : NHMRC Centre of Research Excellence : Transforming the genomic diagnosis and management of severe neurocognitive disorders : Roscioli T, Gecz J, Field M, Schofield D, Buckley M, North K, Dinger M, Christodoulou J, Amor D, Baynam G.

2018-2021 : Genomics Health Future Mission Grant : Establish preconception screening as a viable service to the Australian community: Kirk E et al

Research Papers