iiinova — where your digital self keeps evolving

Reposted by @thorburnmito.bsky.social

NEJM.org @nejm.org · 16/07/2025

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

A partial diagram of mitochondrial replacement therapy involving pronuclear transfer

1112

thorburnmito.bsky.social @thorburnmito.bsky.social · 20/07/2025

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!

000

thorburnmito.bsky.social @thorburnmito.bsky.social · 23/05/2025

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.

020

thorburnmito.bsky.social @thorburnmito.bsky.social · 23/05/2025

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

011

Reposted by @thorburnmito.bsky.social

Zornitza Stark @zornitza.bsky.social · 06/02/2025

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

rdcu.be

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

0137

Reposted by @thorburnmito.bsky.social

Dr Ali Compton-Stubbs @mitochondrially.bsky.social · 30/01/2025

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.

insightplus.mja.com.au

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

061