@thorburnmito.bsky.social
Reposted
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
@institutimagine.bsky.social
July 16, 2025 at 10:03 PM
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
@institutimagine.bsky.social
Reposted
And if you missed the BBC news yesterday, here their today’s article
➡️ www.bbc.co.uk/news/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.
www.bbc.co.uk
July 17, 2025 at 10:58 AM
And if you missed the BBC news yesterday, here their today’s article
➡️ www.bbc.co.uk/news/article...
➡️ www.bbc.co.uk/news/article...
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!
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...
Here the article from @newcastleuni.bsky.social press office ➡️ www.ncl.ac.uk/press/articl...
Eight babies born after Mitochondrial donation
The UK’s pioneering licensed IVF technique to reduce the risk of mitochondrial diseases carried out in Newcastle has seen eight babies born, published research shows.
www.ncl.ac.uk
July 20, 2025 at 9:49 PM
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!
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.
🤗 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!
github.com/populationge...
A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necess...
www.medrxiv.org
May 23, 2025 at 10:23 AM
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.
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
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 1:19 AM
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
Reposted
📣 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
👉 Read it here: tinyurl.com/ys66euwy
@ajhgnews.bsky.social @genomecanada.bsky.social @genomicsengland.bsky.social
March 11, 2025 at 4:31 AM
📣 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
👉 Read it here: tinyurl.com/ys66euwy
@ajhgnews.bsky.social @genomecanada.bsky.social @genomicsengland.bsky.social
Reposted
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/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
February 6, 2025 at 3:25 AM
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/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
Reposted
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
January 30, 2025 at 8:10 AM
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.