Ewout Groen

🚨 New #SMA paper from the lab just published in @jci-insight.bsky.social: Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy insight.jci.org/articles/vie...

NHS plans to DNA test all babies in England to assess disease risk Scheme is part of the government's 10-year plan for the NHS in England aimed at easing pressure on services.

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...

Expansion microscopy reveals nano-scale insights into the human neuromuscular junction Ramadan et al. employ expansion microscopy to visualize neuromuscular junctions in human and mouse muscles. Their findings demonstrate expansion microscopy as an accessible and cost-effective approach...

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

📣 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

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

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...

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by defects in the survival motor neuron 1 (SMN1) gene. Although disease severity partially correlates with SMN2 copy number, ...

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...

New research publication: insights into how nerve-muscle connections develop Apr 2025: A team of researchers led by Prof Tom Gillingwater's laboratory at the University of Edinburgh, have uncovered the complex series of molecular changes that occur in motor neurons around the ...

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

@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...

Dynamic modulation of the motor neuron translatome during developmental synapse elimination Superfluous axons are removed from muscle fibers through temporal changes in mRNA translation.

In getting too excited about the front cover, I forgot to link to the actual paper 🤦‍♂️ Here it is: Dynamic modulation of the motor neuron translatome during developmental synapse elimination | Science Signaling www.science.org/doi/10.1126/...

Front cover of Science Signaling journal with a micrograph of fluorescently labelled neuromuscular junctions (NMJs)

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

🔑 Why this matters: copy-specific variation in SMN2 could help explain:

Genotype-phenotype discordance
Variable treatment response
Disease mechanisms

TL;DR it's complicated, there's more to be done - and more to come!

#SpinalMuscularAtrophy #RareDisease @nanoporetech.com #bioinformatics

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🧪 Using Nanopore sequencing + polyploid phasing, we analyzed individual SMN1/2 copies and their genomic environment, revealing copy-specific sequence and structural variants.

HapSMA is available via github.com/UMCUGenetics...

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🧬 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

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Thanks for flagging it up!

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling Abstract. Spinal muscular atrophy (SMA) is an autosomal recessive disease most commonly caused by homozygous deletion of the SMN1 gene. Parents of affected

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-...

A subcellular map of translational machinery composition and regulation at the single-molecule level Millions of ribosomes are packed within mammalian cells, yet we lack tools to visualize them in toto and characterize their subcellular composition. In this study, we present ribosome expansion micros...

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/...

Targeting common disease pathomechanisms to treat amyotrophic lateral sclerosis Nature Reviews Neurology - This Review explores several key dysregulated pathways in ALS (RNA processing, proteostasis, metabolism and inflammation) as well as evolving efforts to develop effective...

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

Rethinking phase 2 trials in amyotrophic lateral sclerosis There is a long history of ALS therapies being promoted on the basis of Phase 2 data, which then fail to translate into meaningful benefits in Phase 3 tria

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...

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 Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by defects in the surviva

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

🧬🧠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)

Edinburgh skyline showing castle and Arthur's seat with blue sky

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/

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

Not a bad view today from the home office

Fred approves. Or not. One never really with cats

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⬇️

🔬 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...

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

Can you add me too? Thanks!

Our findings highlight that despite understanding genetic causes and having treatments available, optimal treatment of genetic diseases remains challenging.

Exciting to see all the insights the modest fibroblast could give us 🔬🧫