Ewout Groen
@ewout.bsky.social
Biomarkers and mRNA translation | Long-read sequencing | ASOs and gene therapy | SMA & MND research lab at UMC Utrecht | Previously University of Edinburgh | Also cycling, cats, father of 2
"The SMN locus in the T2T era: structure, gene conversion, and clinical implications" by Ewout Groen, Gijs van Haaften, & colleagues "[T]hese advances point toward a future in which structurally complex regions are no longer ‘dark’ areas of the genome..." authors.elsevier.com/sd/article/S...
Very excited to share our new review on the complexity of SMA genetics, now online @cp-trendsgenetics.bsky.social! General interest in complex genetics? Want to know more about long-read sequencing? Segmental duplications? ✅✅✅ Have a look! www.cell.com/trends/genet...
The SMN locus in the T2T era: Structure, gene conversion, and clinical implications
Long-read sequencing, paralog-aware variant calling, and telomere-to-telomere (T2T) human genome assemblies now enable the resolution of copy-, haplotype-, and nucleotide-level complexities in segment...
cell.com
🚨 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...
JCI Insight - Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy
insight.jci.org
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...
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.
bbc.com
New paper from the lab 🚨: Expansion microscopy reveals nano-scale insights into the human neuromuscular junction: Cell Reports Methods www.cell.com/cell-reports...
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...
cell.com
📣 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...
ScienceDirect.com | Science, health and medical journals, full text articles and books.
authors.elsevier.com
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...
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, ...
cell.com
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
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 ...
edin.ac
@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...
Euan MacDonald Centre for Motor Neuron Disease Research@euanscentre.bsky.social · last yr.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
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/...
Dynamic modulation of the motor neuron translatome during developmental synapse elimination
Superfluous axons are removed from muscle fibers through temporal changes in mRNA translation.
science.org
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
🧬 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]
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy
rdcu.be
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 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
academic.oup.com
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/...
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...
science.org
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
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...
eur02.safelinks.protection.outlook.com
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...
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
academic.oup.com
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
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
medrxiv.org
🧬🧠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)
medRxivpreprint@medrxivpreprint.bsky.social · 2y agoLong-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy https://www.medrxiv.org/content/10.1101/2024.07.16.24310417v1
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
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
👨🔬🧠 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
Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts
Groen and colleagues investigate personalized treatment strategies for spinal muscular atrophy (SMA) using patient-derived fibroblasts. They reveal that response to splicing-modifying therapies varies...
cell.com
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.
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A curated collection of all things relating to the Blue Sky social media platform.
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