Fabulous news for #Genomics! Sooo excited to see our #AcuteCareGenomics project funded: onwards and upwards for full national implementation of ultra-rapid #WGS! Over $33 million to boost genomics research into cancers and to combat children’s diseases...

Next up #hgsa2024 @HGSAAustralasia @mmartyn8 presenting results of our study offering 3 types of additional findings using a 2-step model and online decision support #AcuteCareGenomics @AusGenomics

And first new #DiseaseGene out now @AJHGNews #AcuteCareGenomics 🔎🧬

Variants in CAMKD2 causing NDD and dilated cardiomyopathy @DiseaseGenes

👉https://authors.elsevier.com/c/1iUAZgeX6LP2

https://www.cell.com/ajhg/fulltext/S0002-9297(23)00448-2

More #AcuteCareGenomics posters: @KatieArkell10 #ESHG2022 HP focus groups to explore impact of rapid WGS results on clinical decision-making highlighting practical and ethical issues ⁦@AusGenomics⁩ ⁦@BERG_MCRI⁩

@ClaraGaff #ESHG2022 talking now about the #AcuteCareGenomics education program: a tailored, modular approach to increase capability and confidence with rapid #genomics across multiple professional groups @AusGenomics

Next up: ⁦@annaklefevre⁩ with first report of PYROXD2 variants in mitochondrial disease! We have N=1 but beautiful functional data: looking for more patients! 🧬#AcuteCareGenomics #eshg2022

Delighted to see our #AcuteCareGenomics posters up #eshg2022 🤗Starting with Mark Cleghorn: first report of homozygous CYP2C9 variant causing profound warfarin sensitivity and highlighting the value of #genomic data beyond diagnosis!