Accurate diagnosis for a rare disease can take up to 5yrs or longer.

Now, technology being developed by A/Prof David Stroud aims to reduce the diagnosis time and anxiety for patients, and enable faster access to personalised treatments 👉 unimelb.me/4bXUuag
#RareDiseasesDay

💡Light up for MITO🦠

🔬 Mitochondrial disease affects one child born each week in Australia, A/Prof Diana Stojanovski and A/Prof David Stroud (David Stroud) share illuminating insights into their work and the significant impact it has people’s lives 👉 unimelb.me/46jlugH

Research highlight🔎Supporting University of Melbourne A/Prof David Stroud and A/Prof Diana Stojanovski to improve health outcomes for people impacted by mito through developing diagnostic tools and personalised therapeutic strategies. Explore their work in more detail bit.ly/3Prb73B

To diagnose a rare disease, the genome may not be enough. Nikeisha Caruana Bio21 Institute are at #ICG2023 to share RDMS Explorer, a software tool for 'proteomics' - using mass spectrometry and clever maths to sift out the proteins that signal disease. International Congress of Genetics 2023

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

Next Teresa Zhao on high throughput functional genomics. #MassSpec can now assay 1000s of proteins at once, from a variety of primary tissues. Includes about 50% of known clinical genes (based on PanelAppAus Mendeliome panelapp.agha.umccr.org/panels/137/). #ICG2023 Murdoch Children's Research Institute (MCRI)

Also David Stroud on a different billionaires text based social media platform 🧵

This symposia will take place the day after the annual free PMV symposia! Thats two symposia for the price of one! You wont get more mass spec multiomics than that - get your abstracts in now! #proteomics #metabolomics #ECRs #bioinformatics

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

We have MS support and research focused jobs open in the RDMassSpec initiative! Help us translate multi-omics for rare disease dx and work with teams at @bio21institute, Metabolomics Aus, Murdoch Children's Research Institute (MCRI) and Victorian Clinical Genetics Services (VCGS). More info go.unimelb.edu.au/49ps and go.unimelb.edu.au/m9ps

Out now Nature Medicine results of our #AcuteCare Australian Genomics study 🇦🇺 Huge national effort:

290 critically ill 👶
2.9 days to WGS result ⏱️
RNAseq+proteomics+extra analysis 🔍
👉54% diagnosed, major impacts on care 🏥

rdcu.be/dd4M6 🧵

Exome negative 15+ year #diagnosticodyssey solved with multi-omics? MRPL39 as a novel mitochondrial #diseasegene ? Yes please! See our new story in Human Molecular Genetics. Huge thanks to all contributors especially Sumudu (@Zumbugg), Daniella Hock and Dr Ali Compton Stubbs pubmed.ncbi.nlm.nih.gov/37133451

Our multi-centre, international collaboration leads to the identification of TEFM mutations that impair #mtDNA transcription elongation, leading to heterogeneous #mitochondrialdisease with a treatable neuromuscular transmission defect.
nature.com/articles/s4146…

5 year lab anniversary! Thank you to everyone who has worked with us and of course to everyone in the lab who make coming to work every day a pleasure! Nikeisha Caruana Kugapreethan Roopasingam Daniella Hock Linden Muellner-Wong UniMelb MDHS Bio21 Institute

Our new proteome-wide systems genetic analysis of skeletal muscle led by Jeff Molendijk is online at elifesciences.org/articles/82951 and muscle.coffeeprot.com. A thread…

In the tradition of 'excited to share', our paper on the interaction between the endosomal trafficking protein SNX17 and the actin-associated PDLIM protein family is now in its final format in Structure. UQ News Institute for Molecular Bioscience Peter J. Cullen David Stroud
authors.elsevier.com/a/1f%7ED23SNvc…

A fantastic line up showcasing speakers from across Victoria! It’s free and there’ll be drinks and snacks provided. Register here for this hybrid event eventbrite.com.au/e/proteomics-a…

Our latest on how mitochondrial microproteins/SEPs regulate OXPHOS & mito homeostasis. Congrats Liang Chao & Zhang Shan! To David Stroud (shoutout David Robinson David Stroud) & Deb Muoio for another successful collaboration! #microproteins #smORF
cell.com/cell-reports/f…

Our group has a Masters and/or PhD position available University of Melbourne focusing on signaling, proteomics and metabolism in muscle/bone. Here’s some things you could learn…