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📣Out now AJHG Australian Genomics: the first 5 years 🇦🇺🧬🇦🇺🧬 Amazing to see how far we've come, much more to do! authors.elsevier.com/a/1ggtbgeX6KPp…

6 years work by Mito Foundation led to Maeve’sLaw. Now so delighted to be part of the Australian Government MRFF-funded mitoHOPE program led by Prof John Carroll to deliver a Mito donation clinical trial, helping J Christodoulou, Murdoch Children's Research Institute (MCRI) & Australian Genomics co-ordinate a national clin genet network

Congratulations Mike, So well deserved - it’s been great to ride on your coat tails for the last 2 decades😀

1/2. We are delighted to launch the Mitochondrial Disease Health Professionals Guide. This guide was developed in consultation with mito experts and the mito community to help health professionals detect, understand, and manage mito.

2/2. In addition to the guide, our new Health Professionals Hub is now live. Download the guide or visit our hub here: mito.org.au/for-health-pro…

Big congrats to the Murdoch Children's Research Institute (MCRI) mito & Stroud lab (account no longer in use) teams and collaborators for showing the power of quantitative proteomics & RNAseq to solve patients who had to have mito disease but who took quite some searching to find/validate a missing 2nd variant Mito Foundation Australian Genomics

Genetic testing for mito announced in 2023 Australian Federal Budget! Medicare funding for genetic testing for mito could lead to faster and less invasive diagnosis. It can also support diagnosis of family and access to reproductive options. Read more: bit.ly/3WlVH45

Rain at the start and windy at the end but a great day. Fantastic to see Captain Noah out of hospital & speeding across the finish line in his wheelchair - such an inspiration! Congrats too to Bailey Walsh for completing #1 of his 11 planned BLWs in 2023! Mito Foundation Murdoch Children's Research Institute (MCRI)

Amazing effort Zornitza, Seb and team. Rapid acute care genomics and multi-omics at national scale has benefited so many families, including those with Mito disease. Super pleased to be part of this! Murdoch Children's Research Institute (MCRI) @ausmito Australian Genomics

PhD students Megan Baker and Jordan Crameri from @DrDStojanovski lab and Keri-Lyn Kozul from Julia Pagan Lab flying the flag for Australian mito research at Euromit 2023 in Bologna, Italy. Mito Foundation

Mito Foundation’s Sean Murray has joined the #AusGenomicsSummit to talk all things #mitochondrialdisease and the strong community behind it. #ICG2023

Nikeisha Caruana Women in Bioinformatics Australia showing off RDMS Explorer, a tool for analysis and visualisation of proteomics data. Looks like a clean and intuitive interface, and has already proven its worth in support of rapid Dx. Neat. #ICG2023

Proud of Human Genetics Society of Australasia vote on #Yes23 Some say Yes=inequality due to treating people differently. Australian Genomics Summit and Genomics talks this week on #indigenousGenomics emphasised the need to prioritise equity not just equality. Vote Yes to bridge the gap Murdoch Children's Research Institute (MCRI)

Congratulations Nicole, great news and very well deserved. It’s a tad sad to have lost an MCRI alumnus we hoped would return but very proud of your achievements and maybe we’ll steal you back one day😃

Just amazing to report a novel disease gene with over 100 probands👏👏 It shows the power of large well phenotyped cohorts + GS + smart followup + automated & manual phone-a-friend. In our case this is a new "mito mimic" gene for a patient with suspected mitochondrial disease.👍

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

Genetics in Medicine @Mitochondriac_ Rocio Rius So pleased with this national collaboration co-led with Rocio Rius @Mitochondriac_ John Christodoulou & supported by Australian Genomics Mito Foundation Murdoch Children's Research Institute (MCRI) 30% Mito mimics & Dx yield as good in the half of the cohort who had non-European ancestry.

Great work by Megan Ball, Prof Zornitza Stark and colleagues analysing acute care genomics data for patients with mito disease Murdoch Children's Research Institute (MCRI) Mito Foundation

MCRI researchers have penned a piece for MJA's Insight+ on how most patients with suspected #mitochondrial diseases can be diagnosed via #genomic testing instead of an invasive muscle biopsy. | #MCRI David R. Thorburn Mito Foundation Victorian Clinical Genetics Services (VCGS) Full story 👉 tinyurl.com/mrrjzha9