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
Ewout Groen
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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...
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
Ewout Groen
📣 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
"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...
New paper from the lab 🚨: Expansion microscopy reveals nano-scale insights into the human neuromuscular junction: Cell Reports Methods www.cell.com/cell-reports...
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
Euan MacDonald Centre for Motor Neuron Disease Research
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...
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...
Trends in Genetics
🚨 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...
Tom Gillingwater
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...
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
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...
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 ...
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...
