About
Professor Amanda Spurdle graduated in 1992 from the University of Witwatersrand, Johannesburg, with a PhD on human Y chromosome population genetics. After a post-doctoral position at La Trobe University, Professor Spurdle moved to QIMR Berghofer in 2007. Her research has spanned large-scale international collaborative efforts to identify common and rare genetic variants associated with predisposition to and prognosis of several hormonal cancers.
A major research effort is the development and application of methods to determine the clinical importance of variants in cancer susceptibility genes. Professor Spurdle co-founded and now leads the ENIGMA international consortium to develop and apply methods to evaluate variants in breast/ovarian cancer susceptibility genes. She leads the ClinGen Variant Curation Expert Panel for BRCA1/2 variants, and contributes to multiple other ClinGen Variant Curation Expert Panels for hereditary cancer gene variants.
Professor Spurdle leads the Australian Genomics Shariant initiative, promoting structured data sharing, including mRNA and protein functional data, to facilitate and harmonise clinical classification of variants nationally.
Research Skills
Professor Spurdle’s research experience has included population and diagnostic genetics. She uses statistical approaches to define predictors of pathogenic variant status to inform variant classification models. In collaboration, she conducts implementation research related to variant interpretation.
Area of Interest
Professor Spurdle’s research includes molecular epidemiology of cancer, hereditary cancer syndromes, development and application of methods to determine the clinical importance of variants in high-risk cancer susceptibility genes, and promoting sharing of information to facilitate and harmonise clinical classification of variants.