@thorburnmito.bsky.social
Julie Steffann, MD, PhD, describes pronuclear transfer, a type of mitochondrial donation, which was made available to women with mitochondrial DNA disease in a reproductive care pathway implemented in Newcastle, United Kingdom. Read the full editorial: nej.md/3UclYBn @institutimagine.bsky.social
And if you missed the BBC news yesterday, here their today’s article ➡️ www.bbc.co.uk/news/article...
Babies from three people's DNA prevents heriditary disease - BBC News
The method was pioneered by UK scientists to overcome devastating, often fatal inherited diseases.
bbc.co.uk
Huge congrats to authors on the 2 NEJM publications about the birth of 8 healthy babies following Mito donation. So many years of work in developing the procedure, engaging in scientific & ethics reviews, community engagement, legislative change, implementation & follow up. So exciting for families!
Newcastle Mitochondrial Research Group@mitonewcastle.bsky.social · last yr.We are delighted to share the news about eight babies born after Mitochondrial donation. Congratulations to Prof McFarland and everyone involved for all the great work through the years! Here the article from @newcastleuni.bsky.social press office ➡️ www.ncl.ac.uk/press/articl...
Amazing work to scale automated reanalysis of genomic data so that diagnostic labs can do this at a manageable workload. Not surprisingly, we’ve seen lots of diagnoses coming from this approach, which is so beneficial for people with previously unsolved rare diseases. Congrats to all involved.
Zornitza Stark@zornitza.bsky.social · last yr.🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬 github.com/populationge... A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!
Fantastic to see this work published and the bioinformatic tools and criteria freely available to do the equivalent of 8000 western blots at once to boost diagnostic yield in over half the known rare disease genes, with results in under 3 days when needed!@ausgenomics.bsky.social @mcri.bsky.social
David Stroud@dstroudlab.bsky.social · last yr.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!
📣 New paper out now in The American Journal of Human Genetics highlights key priorities from national #genomics programs across seven countries. 👉 Read it here: tinyurl.com/ys66euwy @ajhgnews.bsky.social @genomecanada.bsky.social @genomicsengland.bsky.social
The expanding global genomics landscape: Converging priorities from national genomics programs
As the global landscape of genomics continues to expand, evaluation is needed to inform the design of current and future genomics initiatives. Six key priorities emerged from reviewing and synthesizin...
tinyurl.com
The American Journal of Human Genetics@ajhgnews.bsky.social · last yr.📣New today! 📄The expanding global genomics landscape: Converging priorities from national genomics programs 🧬⚕️ @genomecanada.bsky.social @ausgenomics.bsky.social @genomicsengland.bsky.social
What happens when #genomic testing is funded?🧬 👉 rdcu.be/d8MSL Last 10yrs 🇦🇺: Many tests approved as evidence grows ✅ BUT testing volumes low AND inequitable access Budget impact of #genomics minor: AU$3Mpa or <0.01% of all health expenditure 💰 @ausgenomics.bsky.social @iliasgoranitis.bsky.social
Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023
European Journal of Human Genetics - Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023
rdcu.be
Our national study that shows that people with mitochondrial disease (mito) can be diagnosed by genomic testing of blood. This study has a direct impact on the mito community in Australia by improving the diagnosis accuracy, timeliness, and experience.
Most patients with mitochondrial disease can be diagnosed via genomic sequencing
Diagnosis of mitochondrial diseases has often required invasive muscle biopsies, but a national study shows
insightplus.mja.com.au