Daniella Hock
@daniellahock.bsky.social
Senior Researcher at the University of Melbourne, Australia | Closing the diagnostic gap for rare diseases with rapid proteomics
Reposted by Daniella Hock
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
Prof Rob Taylor talks about this exciting approach here ➡️ www.ncl.ac.uk/press/articl...
@taylorlabncl.bsky.social
New blood test developed to rapidly diagnose rare genetic diseases
Researchers have developed a blood test capable of rapidly diagnosing rare genetic diseases in babies and children, eliminating costly and invasive procedures and giving earlier access to treatment.
www.ncl.ac.uk
June 10, 2025 at 1:29 PM
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
Prof Rob Taylor talks about this exciting approach here ➡️ www.ncl.ac.uk/press/articl...
@taylorlabncl.bsky.social
Reposted by Daniella Hock
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
bit.ly/4dKQ48e
#Epigenetics #MedSky
June 2, 2025 at 3:30 AM
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
bit.ly/4dKQ48e
#Epigenetics #MedSky
Reposted by Daniella Hock
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
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics
May 26, 2025 at 9:27 AM
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
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics
Reposted by Daniella Hock
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
@medicalsciencesncl.bsky.social
@neygenomics.bsky.social
@mitocamb.bsky.social
@londonmito.bsky.social
@lilyfoundation.bsky.social
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...
www.theguardian.com
May 24, 2025 at 11:29 AM
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
@medicalsciencesncl.bsky.social
@neygenomics.bsky.social
@mitocamb.bsky.social
@londonmito.bsky.social
@lilyfoundation.bsky.social
Reposted by Daniella Hock
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!