Rare Voices Australia Recap: Human Genetics Society of Australasia's 47th Annual Scientific Meeting

Rare Voices Australia’s (RVA) Education and Advocacy Manager, Louise Healy, and Research and Evaluation Manager, Dr Falak Helwani, were delighted to attend the Human Genetics Society of Australasia’s (HGSA) 47^th Annual Scientific Meeting between 10 and 13 August 2024. The theme of the meeting was, Beyond Next Generation: The Future of Genomics. At the meeting, attendees heard from a variety of Australian and international experts speaking on topics ranging from emerging gene therapies and pharmacogenomics, to integrating genomics into medicine and novel approaches to genetic counselling. We also heard updates from several RVA research partners, including members of the GenSCAN Consortium.

Louise Healy, Rare Voices Australia's Education and Advocacy Manager — Louise Healy, Rare Voices Australia’s Education and Advocacy Manager

Dr Jane Tiller - Ethical, Legal & Social Adviser in Public Health Genomics, Monash University, Co-founder, Australian Genetic Non-Discrimination Working Group, Co-lead, DNA Screen — Louise Healy, Rare Voices Australia’s Education and Advocacy Manager

Dr (Elizabeth) Emma Palmer - Clinical Geneticist, Sydney Children’s Hospitals Network; University Lecturer, University of New South Wales — Dr (Elizabeth) Emma Palmer – Clinical Geneticist, Sydney Children’s Hospitals Network; University Lecturer, University of New South Wales

Rare Voices Australia's booth — Dr (Elizabeth) Emma Palmer – Clinical Geneticist, Sydney Children’s Hospitals Network; University Lecturer, University of New South Wales

This year, HGSA donated booth space in the exhibitor hall to not-for-profit organisations, including RVA and RVA Partner Genetic Alliance Australia. RVA would like to thank the organisers for the opportunity to have a dedicated space to showcase RVA’s work and for encouraging delegates to visit and learn more about our work. Louise Healy was pleased to present RVA’s poster, Resources for People from Priority Populations Living with a Rare Disease: Lessons Learned and Gaps Identified, co-authored by Louise, Jess Brooklyn (RVA’s Education Project Officer) and Nicole Millis (RVA’s Chief Executive Officer). Louise also co-chaired one of the oral poster sessions.

RVA would like to congratulate our Scientific and Medical Advisory Committee (SMAC) members A/Prof Paul Lacaze and Dr Jane Tiller for their thought-provoking workshop on population genomic screening of adults for medically actionable conditions. Congratulations also to SMAC member, Dr (Elizabeth) Emma Palmer, for her presentation in the Australasian Association of Clinical Geneticists special interest group session, which brought attention to outcomes from the Rare Disease Awareness, Education, Support and Training (RArEST) Project, including the National Recommendations for Rare Disease Health Care, as well as the RARE Helpline and the Rare Awareness Rare Education (RARE) Portal.