Dr Ali Compton-Stubbs
@mitochondrially.bsky.social
Scientist into mitochondrial disease genetics, raising my two daughters, training PhDs and enjoying my married life. Opinions are my own. She/her
Reposted by Dr Ali Compton-Stubbs
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
May 23, 2025 at 12:57 AM
Reposted by Dr Ali Compton-Stubbs
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
May 23, 2025 at 12:57 AM
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!
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
January 30, 2025 at 8:10 AM
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.