A partial diagram of mitochondrial replacement therapy involving pronuclear transfer

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

16.07.2025 22:03 — 👍 11    🔁 2    💬 1    📌 0

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.

And if you missed the BBC news yesterday, here their today’s article
➡️ www.bbc.co.uk/news/article...

17.07.2025 10:58 — 👍 1    🔁 1    💬 0    📌 0

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!

20.07.2025 21:49 — 👍 0    🔁 0    💬 0    📌 0

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.

23.05.2025 10:23 — 👍 2    🔁 0    💬 0    📌 0

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

23.05.2025 01:19 — 👍 1    🔁 1    💬 0    📌 0

📣 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

11.03.2025 04:31 — 👍 8    🔁 5    💬 1    📌 1

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

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

06.02.2025 03:25 — 👍 13    🔁 7    💬 0    📌 1

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

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.

30.01.2025 08:10 — 👍 6    🔁 1    💬 0    📌 0