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Speaker: Teresa Zhao

Topic: Expanded carrier screening - extending our knowledge

Teresa is a medical scientist working at VCGS whose primary focus involves variant curation and interpretation. A PhD student studying the utility of mass-spectrometry based proteomics in the diagnostic setting. She has been working at a NATA-accredited lab performing diagnostic work for more than 9 years. During her time in VCGS she has come across a number of interesting cases which she will be presenting some today."

 

Speaker: Bryony Thompson

Topic: DNA Screen: National pilot study for adult population DNA screening

Bryony is a senior genomics scientist at the Royal Melbourne Hospital (RMH) and lead variant interpretation for adult genomic services. Bryony obtained a PhD in medical sciences from the University of Queensland in 2014. In 2015 Bryony was awarded the NHMRC CJ Martin early career fellowship to conduct postdoctoral training at the Huntsman Cancer Institute, University of Utah (USA) and the University of Melbourne. Bryony joined Melbourne Health Pathology at the RMH in 2018 and was integral in the implementation of the Melbourne Health Pathology clinical exome service achieving NATA accreditation (in June 2019). Bryony has acquired extensive expertise in gene curation (PanelApp Australia curator) and sequence variant interpretation over various disease specialities (e.g. neurogenetics, cardiac, cancer), and is a member of multiple ClinGen variant curation expert panels (including mismatch repair, BRCA1/2, and hereditary haemorrhagic telangiectasia). Bryony continues her involvement in various research projects in genomic testing and variant interpretation.