The 9th Annual Mutational Scanning Symposium starts tomorrow. We can't wait to see you for an action-packed 3 days of insightful presentations and posters and stimulating discussions. www.mss2026.org #VariantEffect26 #MAVE #Genomics #PrecisionMedicine #Symposium #AVEAlliance #AtlasOfVariantEffect

MSS26

Mutational Scanning Symposium 2026, 25-27 March, Melbourne

mss2026.org

More than 60% of Australian medical researchers left active research roles between 2019 & 2024 because they could not make ends meet - while my costings from the PBO suggest the govt could more than double annual spending from the MRFF without any effect on its base level of funding.

Up to $1.4 billion in medical research remains unused under government cap

Researchers say securing funding has become increasingly tough, with many left with no choice but to spend a disproportionate amount of time applying for grants.

abc.net.au

Proud to share this latest publication by our PhD student Dr Megan Ball on mainstreaming genomic testing for #mito disease in Australia. Pleasure collaborate with @zornitza.bsky.social @thorburnmito.bsky.social and John Christodoulou supporting Megan in her studies. www.nature.com/articles/s41...

Mainstreaming genomic testing for mitochondrial disease in Australia - European Journal of Human Genetics

European Journal of Human Genetics - Mainstreaming genomic testing for mitochondrial disease in Australia

nature.com

I’m now in the process of booking in radio guests for 2026 for Einstein A Go Go on 3RRR. Calling all researchers in Melbourne. All fields welcome. PhD and ECRs very welcome. DM me if you are interested in an in person interview. Show broadcasts live Sunday mornings from 11-12.

Happily on holidays finally - family, sun, sand and spicy margaritas

We have billions of dollars in the bank - already put aside for medical research. The government has to spend that money.

The government can’t claim that medical research is a priority while failing to treat it as one. Nine in 10 leading researchers in Australia are missing out on government support for world‑class proposals, leaving exceptional talent uncertain about their future.

Most researchers miss out on innovation grants while medical fund sits on $25b

Nine in 10 Australian researchers had their “ideas grant” applications rejected last year, even as Australia’s medical investment fund sits on $5 billion more than it was designed to hold.

theage.com.au

And some more @mitochondrially.bsky.social @zornitza.bsky.social @taylorlabncl.bsky.social @mike-ryan.bsky.social @drlukeyform.bsky.social @nikeishacaruana.bsky.social @nicolelake.bsky.social plus an AAP article!

Rare genetic diseases rapidly detected under new test

Researchers have developed a new blood test capable of rapidly diagnosing rare genetic diseases in babies and children.

aapnews.aap.com.au

We're super proud to see our study showing utility of proteomics in ultra-rapid variant prioritisation for suspected mito and other rare diseases out in Genome Medicine (rdcu.be/endwE). Too many amazing collabs to thank, so here are the big ones @daniellahock.bsky.social @thorburnmito.bsky.social!

Cutting the diagnosis journey for children born with rare genetic diseases

Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, finds new...

pursuit.unimelb.edu.au

Our national study that shows that people with mitochondrial disease (mito) can be diagnosed by genomic testing of blood. This study has a direct impact on the mito community in Australia by improving the diagnosis accuracy, timeliness, and experience.

Most patients with mitochondrial disease can be diagnosed via genomic sequencing

Diagnosis of mitochondrial diseases has often required invasive muscle biopsies, but a national study shows

insightplus.mja.com.au