David Stroud
@dstroudlab.bsky.social
Functional Genomics | Clinical Proteomics | Rare Disease
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.
Complex II assembly drives metabolic adaptation to OXPHOS dysfunction
Succinate dehydrogenase assembly dynamics maintains metabolic homeostasis during mitochondrial oxidative stress.
science.org
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
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...
theguardian.com
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