Industry Breakfast Sessions

Tuesday 18 July 2023

Time: 0700 - 0800hrs Room 208, Melbourne Convention and Exhibition Centre

Session title: The new FACE of Fabry disease: Updated Australian guidelines and long term data

Session speakers: Associate Professor Kathy Nicholls RMH and Associate Professor Mark Thomas

Session synopsis: Fabry’s disease is a rare genetic disorder caused by defects in the GLA gene on the X chromosome that causes significant morbidity and premature mortality. Once thought to only have a prevalence of 1:117,000, evidence now suggests that it is much more common.

In response to this growing need, the Medical Advisory Committee to Fabry Australia have recently produced new Australian Fabry management guidance. Join us at this symposium for an overview of these guidelines, and the latest data for Galafold, one of the treatments for Fabry’s disease.

Chaired by Associate Professor Kathy Nicholls, this symposium was useful for anyone working in genetic and metabolic medicine who wanted to learn more about the importance of early diagnosis of this increasingly common disease and hear the latest guidance on how to manage these patients once they are diagnosed.

Wednesday 19 July 2023

Time: 0700 - 0800hrs Room 208, Melbourne Convention and Exhibition Centre

Session title: Enhancing the understanding of disease genomes through optical genome mapping and, introducing VIA - a complete genomic data analysis platform for clinical research

Session speakers: Professor Naomichi Matsumoto, Yokohama City University and Nandita Mullapudi, Bionano

Session synopsis: This Bionano Industry Symposium featured invited speaker Naomichi Matsumoto (Professor, Human Genetics, Yokohama City University, Japan) who spoke on the application of Optical genome mapping to enhance the understanding of disease genomes. Following Prof. Matsumoto’s talk, Nandita Mullapudi, Market Development Manager APAC, Bionano, presented a demonstration of Bionano VIA™ software, showcasing its latest features enabling the integrated Visualization, Interpretation and Analysis of cytogenomic and NGS data, resulting in a truly comprehensive view of genomic aberrations in a sample.

Thursday 20 July 2023

Time: 0700-0800hrs Room 208, Melbourne, Level 2, Melbourne Convention and Exhibition Centre

Session title: Missed connections: Why genomics and digital health aren’t getting along

Session speaker: Dr Natalie Thorne, PhD, CHIA Scientific Director, Genomical Melbourne Genomics Health Alliance

Session synopsis: For precision medicine to work, you need to understand a patient’s genomic, lifestyle and health records. But the systems that hold these records don’t speak to each other. Over breakfast, Dr Natalie Thorne played matchmaker. She explained why the systems need to connect and exchange data, and showed examples from Victoria. Her insights came from hands-on experience of building a shared digital health platform for genomics. Ham and eggs. Toast and jam. Genomics and digital health. Some things just belong together.