ewout.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

Every newborn baby in England will have their DNA mapped to assess their risk of hundreds of diseases. Genomic screening of newborns for rare diseases will involve sequencing their complete DNA using umbilical cord blood samples. 🧪👶🏽🧬🩸 #medsky www.bbc.com/news/article...

submitted 9 days ago • 8 comments

New paper from the lab 🚨: Expansion microscopy reveals nano-scale insights into the human neuromuscular junction: Cell Reports Methods www.cell.com/cell-reports...

submitted 13 days ago • 3 comments

📣 5th International Scientific Congress on SMA: registration opens today! 🔬 The event will take place from 11th to 14th March 2026 in Budapest, Hungary. Visit https://congress.sma-europe.eu/ to learn more #spinalmuscularatrophy #research #raredisease

submitted 12 days ago • 0 comments

If you're struggling to visualise mouse NMJs, we've got a protocol just for you! bio-protocol.org/en/bpdetail?... Dissection and whole-mount immunofluorescent staining of mouse hind paw muscles for #NMJ analysis Lovely work from Rebecca Simkin @uclqsion.bsky.social @nicolbirsa.bsky.social‬

submitted 40 days ago • 0 comments

Our new open access review published in @cp-trendsmolecmed.bsky.social provides an update on the exciting potential of targeting PGK1 as a therapeutic option for neurological diseases, including Parkinson’s disease and motor neuron diseases such as ALS: authors.elsevier.com/sd/article/S...

submitted 76 days ago • 1 comment

The last part of our SMA genetics trilogy is now online at iScience @cellpress.bsky.social! Here we use ONT technology to determine SMN2-specific methylation profiles. We find how methylation may regulate SMN with aging but it may not be a great biomarker. Have a look: www.cell.com/iscience/ful...

submitted 69 days ago • 0 comments

Congrats to Prof Tom Gillingwater's lab at the University of Edinburgh on the publication & awesome front cover in Science Signaling. Read about the insights into how nerve-muscle connections develop 📘 edin.ac/42egXNC @tomgillingwater.bsky.social, @edinunineuro.bsky.social @drchayts.bsky.social

submitted 75 days ago • 0 comments

@tomgillingwater.bsky.social lab have been collaborating with colleagues from @umcutrecht.bsky.social and CNR Trento to uncover the complex series of molecular changes that occur in motor neurons around the time of birth, when they undergo a process known as synapse elimination...

submitted 74 days ago • 2 comments

There are still few better feelings as an academic than when your paper’s image is chosen for the front cover of a journal #ProudPI #NMJ Confocal micrograph taken by the amazing @drchayts.bsky.social

submitted 75 days ago • 1 comment

🧬 New in Genome Medicine: rdcu.be/eezPN We developed HapSMA, a method for copy-specific analysis of the SMN locus in SMA using long-read sequencing. 🔍 Key findings: Novel markers of SMN1→SMN2 gene conversion 42% of SMN2 copies show gene conversion Higher complexity in patients vs controls [1/3]

submitted 98 days ago • 1 comment

Excited to share our new paper in which we used both @nanoporetech.com and @pacbio.bsky.social long-read sequencing to solve a complex case of SMA carriers carriership: academic.oup.com/hmg/advance-...

submitted 104 days ago • 2 comments

Incredible stuff (as always) from the Barna lab: A subcellular map of translational machinery composition and regulation at the single-molecule level | Science www.science.org/doi/10.1126/...

submitted 114 days ago • 1 comment

Delighted to see a lot of hard work by my fantastic colleagues Kiterie and Helena being repaid with the publication of their new paper detailing our thoughts on potential #ALS therapies, in @natrevneurol.bsky.social Free to access version here: rdcu.be/d5odi

submitted 178 days ago • 0 comments

New paper to reflect on the main challenges in phase 2 #ALS #MND trials. Key issues relate too short study durations, reliance on the wrong outcome measures, absence of biomarkers, statistical issues, over-interpretation of 'clinical trends' and miscommunication. academic.oup.com/brain/articl...

submitted 201 days ago • 6 comments

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy https://www.medrxiv.org/content/10.1101/2024.11.21.24317551v1

submitted 219 days ago • 0 comments

🧬🧠Turns out @medrxivpreprint.bsky.social automatically shared our preprint on SMA genetics before everyone joined here - which should be a good excuse to post this again! We're working hard on revising it for definitive peer-reviewed publication, hoping to share it (+a short thread) soon(ish)

submitted 222 days ago • 1 comment

The SIDB PhD programme with projects on neurodevelopmental disorders (including one from our lab) is now open for applications. Good stipend, excellent environment and a beautiful city sidb.org.uk/phds/

submitted 222 days ago • 0 comments

The strain on scientific publishing: we set out to characterise the remarkable growth of the scientific literature in the last few years, in spite of declining growth in total scientists. What is going on? direct.mit.edu/qss/article/... A 🧵 1/n #AcademicSky #PhDchat #ScientificPublishing #SciPub

submitted 223 days ago • 46 comments

Not a bad view today from the home office

submitted 224 days ago • 0 comments

What if we could look at a human tissue image🔬and quantify its biological age?🧬 And how could we get the same insights without collecting the tissue sample? In our new @biorxivpreprint, we create "tissue clocks" ⏳to do just that! www.biorxiv.org/content/10.1... 📝 #aging #tissue thread below⬇️

submitted 225 days ago • 2 comments

🔬 Are you eager to dive into the world of light microscopy & learn from top-notch microscopists about its essential techniques for life science applications? If that sounds exciting, don’t miss out on this free, in-depth iBiology series! 👉 www.ibiology.org/online-biolo...

submitted 225 days ago • 17 comments

Science in the Netherlands. The new government is planning very strong cuts in the research and higher education budget. There was a national protest planned for today in Utrecht, which got cancelled yesterday by the organisers after advice from the mayor/police because of security threats. 1/3

submitted 228 days ago • 1 comment

👨‍🔬🧠 Excited to share the lab latest paper on SMA out today! www.cell.com/molecular-th... In it, we used 45 patient-derived cell lines to understand why spinal muscular atrophy (SMA) patients respond differently to available treatments. 1/3

submitted 228 days ago • 1 comment

Framework for maintaining scientific rigor in N-of-1 trials www.nature.com/articles/s41...

submitted 229 days ago • 1 comment

Starter packs are genius, but I was surprised there wasn't a list of them for people to find. So I built it: blueskydirectory.com/starter-pack... The website monitors the packs being shared and adds the ones it finds to the database. Missed your stater pack? Message me and I'll get it added.

submitted 230 days ago • 1168 comments