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ruhrsynapse.bsky.social
R-Synapse
@ruhrsynapse.bsky.social
28 followers 63 following 31 posts
Neuroscientist, human genetics @UK Essen
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ruhrsynapse.bsky.social
R-Synapse @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/...
Reposted by R-Synapse
mdc-berlin.bsky.social
Hooray! 🥳 ImmunoPreCept is selected as new Cluster of Excellence and will be funded as part of Germany’s national Excellence Strategy, NeuroCure enters its fifth funding period!

The was just announced by @dfg.de & @wissenschaftsrat.de.
#ExStra #Exzellenzcluster

👉 www.mdc-berlin.de/news/press/m...
Maike Sander: “Berlin’s vibrant research landscape shows that collaboration across institutional boundaries is a driver of success. I am particularly happy that our center is involved in two of the funded clusters – in close collaboration with Charité and the universities. My congratulations and thanks go to everyone who worked tirelessly on the applications.” Nikolaus Rajewsky: “‘To cure diseases, one first has to understand what is happening in cells,’ Rudolf Virchow once postulated. We now have the technical means to turn Virchow‘s dream into reality here in Berlin. We want to redefine precision prevention and become a driving force in the field – in Berlin, Germany, and worldwide.”
May 22, 2025 at 3:58 PM
ruhrsynapse.bsky.social
Our Tuesdays seminar was held by @mdc-berlin.bsky.social researcher Nik Majewski!
* Spatial omics can resolve ligand receptor interactions at single cell resolution
* new research including tumor Origin transcriptomics
* interactive database of transcriptomic datasets
#UKEssen #genetics #RNA
October 28, 2025 at 2:05 PM
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zornitza.bsky.social
🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬

👉 www.nature.com/articles/s41...

1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability
October 9, 2025 at 8:03 PM
ruhrsynapse.bsky.social
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)
May 27, 2025 at 3:33 PM
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y-luo.bsky.social
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*!
May 25, 2025 at 7:27 AM
ruhrsynapse.bsky.social
@zornitza.bsky.social says it best. Even after 4 days of science Katalin Karikó's Mendel Lecture feels special. #eshg2025 #genetics #RNA
zornitza.bsky.social Zornitza Stark @zornitza.bsky.social · May 27
#ESHG2025 extraordinary to be listening to Katalin Kariko deliver this year’s Mendel lecture! @eshg.bsky.social
May 27, 2025 at 12:26 PM
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mo-wafik.bsky.social
#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
May 26, 2025 at 3:48 PM
ruhrsynapse.bsky.social
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
May 26, 2025 at 9:50 AM
ruhrsynapse.bsky.social
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
May 26, 2025 at 9:27 AM
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nickywhiffin.bsky.social
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
nickywhiffin.bsky.social 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
May 26, 2025 at 8:09 AM
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jamesfasham.bsky.social
Sébastien Küry #ESHG2025

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
May 26, 2025 at 9:06 AM
ruhrsynapse.bsky.social
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
May 25, 2025 at 4:36 PM
ruhrsynapse.bsky.social
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
May 25, 2025 at 4:17 PM
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teodorabarbarii.bsky.social
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
May 25, 2025 at 4:02 PM
ruhrsynapse.bsky.social
Important long-read data for solving our neurology and neurodegenerative cases by Dr. Jensen, Stanford U #eshg2025 #neurodegeneration
mo-wafik.bsky.social 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
May 25, 2025 at 10:35 AM
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nickywhiffin.bsky.social
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
May 25, 2025 at 9:29 AM
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nickywhiffin.bsky.social
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
May 25, 2025 at 9:29 AM
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jamesfasham.bsky.social
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
May 25, 2025 at 9:25 AM
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nickywhiffin.bsky.social
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
May 25, 2025 at 8:57 AM
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jamesfasham.bsky.social
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)
May 25, 2025 at 9:02 AM
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nickywhiffin.bsky.social
It's time!!!

An entire session of #eshg2025 on snRNA genes ❤️🤓
May 25, 2025 at 8:32 AM
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ahoischen.bsky.social
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
May 24, 2025 at 4:45 AM
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pilarcacheiro.bsky.social
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
May 25, 2025 at 7:23 AM
ruhrsynapse.bsky.social
#dessertsofeshg Raspberry tartlets
May 24, 2025 at 7:28 PM
ruhrsynapse.bsky.social
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
May 24, 2025 at 4:58 PM