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@ruhrsynapse.bsky.social

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Neuroscientist, human genetics @UK Essen Views are their own.

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 24

📢📢📢 Paper alert 📢📢📢
Proud to present my proof-of-principle for catching novel disease-associated genes with #single-cell co-expression. #epilepsy #neuroprotection #genetics #brain
journals.biologists.com/dmm/article/...

ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 27

Thanks for reporting about the parallel sessions and highlights, @nickywhiffin.bsky.social @jamesfasham.bsky.social @pilarcacheiro.bsky.social @zornitza.bsky.social @agnescaruso.bsky.social and all #eshg2025
I got incredible feedback and will work hard to implement it by next year.

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 27

I'm grateful for all the scientific exchange at #eshg2025 in a beautiful setting, the city of Milan. Thanks to the organizers @eshg.bsky.social @eshgyoung.bsky.social and geneticists for broadening my horizon like @christiangilissen.bsky.social @cwlaflamme.bsky.social @svergult.bsky.social (1/2)

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Yang Luo @y-luo.bsky.social · May 25

Amazing population-level single cell RNAseq showcases at #eshg2025 -TenK10K (Powell, Australia) and 6.5K donors (Soranzo,UK). lots of interesting findings:cell-type specific eQTLs, disease-associated cell compositions, eGenes enrichment for drug developments, etc. Crucially - they're *open source*!

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 27

@zornitza.bsky.social says it best. Even after 4 days of science Katalin Karikó's Mendel Lecture feels special. #eshg2025 #genetics #RNA

Zornitza Stark @zornitza.bsky.social · May 27

#ESHG2025 extraordinary to be listening to Katalin Kariko deliver this year’s Mendel lecture! @eshg.bsky.social

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Mohamed Wafik @mo-wafik.bsky.social · May 26

#ESHG2025 day 3

Prof Zornitza Stark presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis:

• 86% of known in scope diagnoses
• >250 new diagnoses from a cohort of 4,735 undiagnosed cases
• ~ 30% from new gene-disease relationships

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 26

Repeat expansion detected by @cwlaflamme.bsky.social through methylation, long-read and population data. (@hcmefford.bsky.social lab research, gene name hidden ->unpublished study)
#eshg2025 @eshg.bsky.social #epilepsy #raredisease

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 26

Daniella Hock, U Melbourne: proteomics diagnostics in rare disease. Fascinating ECHS1 #epilepsy synonymous + del compound heterozygous variant w/ founder effect/regional polymorphism.
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics

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Nicky Whiffin @nickywhiffin.bsky.social · May 26

The team have all done their job beautifully #proudPI - now it is my turn.

Join us in the late breaking session to hear about collaborative work with @gregfindlay.bsky.social on saturation genome editing of RNU4-2 (at 11:30).

You will also get to hear the awesome @chundru.bsky.social!

#eshg2025

Nicky Whiffin @nickywhiffin.bsky.social · May 24

It's #eshg2025 #eshg25 time 🥳

Here is where you can catch the team over the next few days.

Please go and say hi!

A flyer advertising four talks and one poster:
Yuyang Chen - 11:30am Saturday 24th; talk (C01) - De novo variants in small open reading frames harbour new rare disease diagnoses
Anthony McGuigan - 6:45pm Saturday 24th; talk (C09) - Gene knockouts across 120,404 individuals for novel rare disease gene discovery
François Lecoquierre - 7:15pm Saturday 24th; talk (C09) - A map of predicted pseudoexons in human genes
Hyung Chul Kim - 1pm Sunday 25th; poster (P18.006.A) - Rare variant association study reveals small open reading frames (smORFs) as novel regulators of cardiometabolic diseases
Nicky Whiffin - 10:30am Monday 26th; talk (C29) - Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

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James Fasham @jamesfasham.bsky.social · May 26

Sébastien Küry #ESHG2025

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 25

Musa Mhlanga presenting on non-coding genetics in adaptive immunity. Links to metabolic pathways: glycolysis, OxPhos. Silencing lncRNA as therapeutic inroad in regulatory deficiencies causal for immune deficiencies. #eshg2025 @radboudumc.bsky.social
co-chaired @christeldepienne.bsky.social

ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 25

Great long-read panel chaired by @christiangilissen.bsky.social ending with insights on de novo assembly with examples of graph visualization.
Wolfram Höps:
"Larger pieces make for an easier puzzle" 🐦
#eshg2025 #genetics #sequencing @pacbio.bsky.social @nanoporetech.com @radboudumc.bsky.social

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Teodora Barbarii @teodorabarbarii.bsky.social · May 25

Elfride de Baere talking about the role of UCNEs in retinal disorders #eshg2025

UCNEs:
-ultraconserved regions in the genome spanning>200bp
-4351 unique UCNEs
-active UCNE located upstream PAX6 gene

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 25

Important long-read data for solving our neurology and neurodegenerative cases by Dr. Jensen, Stanford U #eshg2025 #neurodegeneration

Mohamed Wafik @mo-wafik.bsky.social · May 25

#ESHG2025 Day 2!

Unlocking the hidden genome in neurodegeneration

Dr Jensen sharing Stanford's data
Using long read sequencing and multi omics in 551 deeply phenotyped individuals with neurodegenerative disease to identify >200K structural variants (SVs), most invisible to short reads.
#LRS

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Nicky Whiffin @nickywhiffin.bsky.social · May 25

Next up: Amandine Santini

International study led by
@christeldepienne.bsky.social
145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases).

35 cases/45 controls - identify a shared episignature.

#eshg2025 1/2

www.nature.com

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Nicky Whiffin @nickywhiffin.bsky.social · May 25

AS - also identify 17 individuals in RNU5B-1 and 3 in RNU5A-1 - all within a conserved stem-loop region.

Such beautiful work!

Recently published here: www.nature.com/articles/s41...

#eshg2025 2/2

www.nature.com

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James Fasham @jamesfasham.bsky.social · May 25

Amandine Santini #ESHG2025

Dominant variants in major spliceosome U4 & U5 small nuclear RNA genes cause NDDs through splicing disruption

#RNU4-2 T loop variants (early, severe) differ to Stem III domain variants (milder)

Episignature (147 probes) correlate swith severity

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Nicky Whiffin @nickywhiffin.bsky.social · May 25

Next: Silvestre Cuinat, to the minor spliceosome RNU4ATAC - through collaboration build a cohort of 63 new patients and compared to 104 in literature - broad phenotypic spectrum including autoimmune comorbidities. Now 48 P/LP variants (15 novel) - 25% of all nts (far higher in key domains) #eshg2025

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James Fasham @jamesfasham.bsky.social · May 25

Silvestre Cuinat #ESHG2025

65 new RNU4ATAC-related patients

MOPD1, Roifman & Lowry–Wood syndrome classic, but Usher-like presentation seen & autoimmune (44%)

Normal OFC (10%), height (20%), neurodevelopment (15%), no sign pathognomonic, no sign universal

(no preprint)

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Nicky Whiffin @nickywhiffin.bsky.social · May 25

It's time!!!

An entire session of #eshg2025 on snRNA genes ❤️🤓

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Alex Hoischen @ahoischen.bsky.social · May 24

Buongiorno Milano! Ready for a great day 1 of #eshg2025?
Packed program of excellent science 8.30am-8.00pm - plus networking event till 9.30pm to meet many friends, colleagues and collaborators! …andiamo @eshg.bsky.social @eshgyoung.bsky.social

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Pilar Cacheiro @pilarcacheiro.bsky.social · May 25

Francisca Millan presenting on the nonsense-mediated mRNA decay session. Love this example illustrating the impact of three types of variants -LoF, missense and PTVesc- in one single gene.

#ESHG2025

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 24

#dessertsofeshg Raspberry tartlets

ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 24

Anthony McGuigan on large-scale comparison of short-read CNV and SV to re-evaluate unsolved cases. Taking the audience right down to IGV-level read screenshots for PDC (OMIM *171490). #raredisease #genetics @nickywhiffin.bsky.social
#eshg2025

Stay tuned for #dessertsofeshg

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Mohamed Wafik @mo-wafik.bsky.social · May 24

Live from #ESHG2025

The role of long-read sequencing in transforming germline diagnostics (Radboud UMC 1,000 clinical samples study):

94.6% concordance with standard of care
 4.5% additional diagnose mainly in recessive disease via haplotyping & novel variant detection
 #LRS #RareDisease

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Gerome Breen @psychgenomics.bsky.social · May 24

Karina Miga @humanpangenome.bsky.social announcing release 2 - each genome is 2 Pacbio flowcells, 2.5 @nanoporetech.com flowcells, 60x omni-c Illumina and hifasm and verkko assemblies of these. #eshg2025 - goal here to have a reference genome that reflects human population.

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