For once people with a rare disease get the platform they deserve. So grateful for Charli who has a 22q11 deletion syndrome joining Rick Guidotti from Positive Exposure on Channel 7's sunrise show to talk about a new model of rare disease health care and our events www.rarediseasesnsw.org.au

Stunning talk by @edenrobertson.bsky.social at our first #rarediseaseday conference at Sydney Children's hospital- comprehensive codesigned research with the inherited retinal disease community shaped by their priorities

Fabulous talks today at the Royal College of Pathologist's annual conference in Naarm/Melbourne by @nickywhiffin.bsky.social and A/Prof Octavia Peck Palmer . Some fitting street art for these incredible researchers
Great to share our research www.geneequal.com and www.rarediseases.org.au

Imagine more- the theme for this year's #rarediseaseday Honoured to represent Rare Voices Australia's medical and scientific advisory board at this year's federal parliamentary rare disease event with fellow clinicians Lisa Ewans and Prof Adam Jaffe

Very proud of our PhD student Dr Lavvina Thiyagarajan is exploring such an important topic in delving into what is known of #autistic individuals preferences and opinions about #genomic testing.. Watch this space for her systematic review ( spoiler autistic individuals have rarely been asked....)