New blood test developed to rapidly diagnose rare genetic disorders 🧬🩸 Prof Rob Taylor talks about this exciting approach here ➡️ www.ncl.ac.uk/press/articl... @taylorlabncl.bsky.social

A study published in Genome Medicine provides a framework to support the integration of a single untargeted proteomics test into routine diagnostic practice for the diagnosis of mitochondrial and potentially other rare genetic disorders. bit.ly/4dKQ48e #Epigenetics #MedSky

Daniella Hock, U Melbourne: proteomics diagnostics in rare disease. Fascinating ECHS1 #epilepsy synonymous + del compound heterozygous variant w/ founder effect/regional polymorphism. Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics

Coverage of this important work led by @daniellahock.bsky.social and @dstroudlab.bsky.social who support our @lifearc.bsky.social research to replicate this @medicalsciencesncl.bsky.social @neygenomics.bsky.social @mitocamb.bsky.social @londonmito.bsky.social @lilyfoundation.bsky.social

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!