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Reposted by Ewout Groen

Tom Gillingwater @tomgillingwater.bsky.social · Sep 9

🚨 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

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Reposted by Ewout Groen

Dan Jagger @auditorynerves.bsky.social · Jun 21

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.

www.bbc.com

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Reposted by Ewout Groen

Tom Gillingwater @tomgillingwater.bsky.social · Jun 16

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...

www.cell.com

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Reposted by Ewout Groen

SMA Europe @sma-europe.bsky.social · Jun 18

📣 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

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Reposted by Ewout Groen

James N. Sleigh @jamessleigh.bsky.social · May 21

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

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Reposted by Ewout Groen

Tom Gillingwater @tomgillingwater.bsky.social · Apr 14

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

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Ewout Groen @ewout.bsky.social · Apr 21

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, ...

www.cell.com

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Reposted by Ewout Groen

Euan MacDonald Centre for Motor Neuron Disease Research @euanscentre.bsky.social · Apr 16

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

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Reposted by Ewout Groen

Edinburgh Neuroscience @edinunineuro.bsky.social · Apr 16

@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 · Apr 16

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

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Reposted by Ewout Groen

Tom Gillingwater @tomgillingwater.bsky.social · Apr 15

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.

www.science.org

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Reposted by Ewout Groen

Tom Gillingwater @tomgillingwater.bsky.social · Apr 15

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

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

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Ewout Groen @ewout.bsky.social · Mar 23

🔑 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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Ewout Groen @ewout.bsky.social · Mar 23

🧪 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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Ewout Groen @ewout.bsky.social · Mar 23

🧬 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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Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

rdcu.be

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Ewout Groen @ewout.bsky.social · Mar 18

Thanks for flagging it up!

Ewout Groen @ewout.bsky.social · Mar 17

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

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Reposted by Ewout Groen

Liam Faller @liamfaller.bsky.social · Mar 7

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...

www.science.org

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Reposted by Ewout Groen

Tom Gillingwater @tomgillingwater.bsky.social · Jan 2

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

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Reposted by Ewout Groen

Ruben van Eijk @rpavaneijk.bsky.social · Dec 10

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

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Reposted by Ewout Groen

medRxivpreprint @medrxivpreprint.bsky.social · Nov 23

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

www.medrxiv.org

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Ewout Groen @ewout.bsky.social · Nov 20

🧬🧠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 · Jul 17

Long-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 complex 2 Mb survival motor neuron (SMN) locus on chromosome 5q13, including the spinal muscular

www.medrxiv.org

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Reposted by Ewout Groen

Cathy Abbott @cathyabbott.bsky.social · Nov 20

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/

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

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Reposted by Ewout Groen

Mark A. Hanson @hansonmark.bsky.social · Nov 19

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

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Ewout Groen @ewout.bsky.social · Nov 18

Not a bad view today from the home office

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Ewout Groen @ewout.bsky.social · Nov 17

Fred approves. Or not. One never really with cats

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