Dr Ali Compton-Stubbs

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

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...

Fascinating work

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.

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.

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.

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.

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!

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...

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!

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

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.