Professor Deon Venter MBChB PhD FRCPA MBA is Director of Pathology at Mater Health Services, a major tertiary academic medical center based in Brisbane, Australia.

He pioneered the use of genomic technologies in cancer diagnostics and research in Australasia. He is an author on over 100 peer-reviewed publications, the majority of which relate to the fields of cancer genetics and genetic-based diagnostics. His other contributions include being the first to demonstrate the expression of the HER2 protein on the cell membrane of breast cancer cells, which identified this molecule as a viable target for developing the drug Herceptin.

He is the first Australasian MD to have his genome sequenced.

He has consulted for major pharmaceutical companies, a NASDAQ-Listed Biotechnology Company, several biotechnology startups, based in Europe, the USA and Australia and the International Olympic Committee (IOC) Medical Commission Working Group. He has participated in WHO-led meetings to formulate strategies to implement genetic services in developing countries.

He has given multiple invited presentations within Australia and overseas.

Title:

Using whole genome and whole exome sequencing to solve unsolvable cases

Abstract

Whole genome and whole exome sequencing technologies have begun to enter mainstream medical management. We have utilised WGS and WES to assist in identifying the causes of perinatal death in a cohort of our cases that had not been resolved, despite prior extensive autopsy evaluation that included cytogenetic and microarray analysis.

Together with colleagues at the Erasmus Medical Centre, Rotterdam, led by Prof. Peter van der Spek, we have developed a bioinformatics pipeline to assist us in processing WGS and WES data. By using this suite of technologies, as well as detailed phenotypic analysis, we have managed to identify the causes of the underlying lethal events that led to perinatal death in several cases.