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

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!