The Australian Functional Genomics Network organised the Rare Disease: Australian Functional Genomics Conference 14th – 15th September, held in Melbourne. The overall theme of the conference was to demonstrate the importance of model systems in facilitating the clinical interpretation of genetic variants and enabling the translation of genomic findings into a patient diagnosis. Both the research and clinical communities attended and promoted the exchange of ideas and information between medicine and biomedical research.
The program included 2 international, 16 national invited speakers and 16 abstract selected oral presentations. Two interactive sessions addressed the future requirements of scientists (in collaboration with the Australian Phenomics Network) and clinicians in the functional genomics area. The poster session was held at the Melbourne Museum and thoroughly enjoyed by the delegates who wondered around the 44 posters on display whilst enjoying drinks and canapes.
Presentations and discussions from this meeting highlighted the strong need for functional genomics in the genomic medicine diagnostic pipeline through coordinated and streamlined processes to facilitating functional genomics for variants of unknown significance (VUS) and continued support/investigations for VUS in known disease genes.
We congratulate the two winners of the poster prizes
Mouse model of myoclonus epilepsy and ataxia due to a mutation in KCNC1 potassium channel gene
Presenter: Dr. Nikola Jancovski, Ion Channels and Diseases Laboratory, Florey Institute of Neuroscience and Mental Health
Duplication and deletion of key SOX9 enhancers cause sex reversal in humans
Presenter: Brittany Croft, PhD Candidate, Reproductive Development Laboratory, Murdoch Children's Research Institute
We looking forward to next years event to be held in Sydney Nov 2019.
We would like to thank the conference organising committee:
Prof. John Christodoulou, Prof. Andrew Sinclair, Prof. Hamish Scott, A/Prof. Coral Warr, A/Prof Robert Bryson-Richardson, Prof. Ian Smyth, Prof. Nigel Laing, Prof. Jozef Gecz, Prof. Richard Harvey, Dr Cas Simons, Prof. Patrick Tam, Tiffany Boughtwood, Tessa Mattiske.
This event was sponsored by