Complex II assembly drives metabolic adaptation to OXPHOS dysfunction Succinate dehydrogenase assembly dynamics maintains metabolic homeostasis during mitochondrial oxidative stress.

We noticed CII assembly factor SDHAF2 accumulates in some OXPHOS deficient cell lines but not others. New Dr Kugan cracked the case: CII assembly controls a balance btwn TCA cycle direction and protection from Q-pool stress to support ROS-meditated metabolic reprogramming in OXPHOS adapted cells.

Dr Dani Hock from @dstroudlab.bsky.social
presenting on #RDMassSpec in diagnosis of #raredisease in the Multiomics session #ESHG2025

Blood test developed that could speed up diagnosis of rare diseases in babies Scientists say new approach means effects of many genetic mutations can be analysed at once and yield results in days A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner. Rare genetic disorders include a host of conditions, from cystic fibrosis to diseases relating to the mitochondria – the powerhouses of our cells. However, getting a diagnosis can be arduous. Continue reading...

Blood test developed that could speed up diagnosis of rare diseases in babies

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!