Teodora Barbarii
@teodorabarbarii.bsky.social
Medical geneticist studying rare neurodevelopmental and neurogenetic disorders. PhD student at University of Manchester
🗳️ It's time to vote! The #eshg2026 Photo Competition finalists have been selected. While there were no entries for Best Virtual Setup, we have some great contenders for: 📸 Best Selfie 😂 Funniest Picture 👉 Vote here: forms.gle/WVNYz4rXChGr... ⏰ Voting closes Monday, 22 June
Preview of the gnomAD-LR browser. Phased haplotypes and methylation will be available. The browser is coming this summer. #eshg2026
What has been your favorite session of #esgh2026 so far?
Great session about the importance of splicing in diagnosis and treatment of rare disorders! #eshg2026
Mohamed Wafik@mo-wafik.bsky.social · 2mo ago🧬 Fascinating #esh2026 session on RNA splicing and rare disease genetics. From RNU2-2–related disorders to SpliceAI triaging and iPSC-derived brain models. Understanding splicing is transforming diagnosis and therapeutic discovery 🚀🔬 #RareDisease #Genomics
👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social 3,171 abstracts from 95 countries: 🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al 👥6,048 participants: 🙋♂️🙋♀️4,812 in person 💻 🖥️1,248 online ⛅️ Fascinating word cloud from all presentation titles 🇸🇪 It’s good to be in Gothenburg! #RareDisease #Genomics
The official #eshg2026 Starter Pack is ready to go! 🧬 Join the network and help us build the ESHG community on Bluesky! @eshg.bsky.social @eshgyoung.bsky.social
European Society of Human Genetics@eshg.bsky.social · 2mo agoWe’ve updated our starter package with interesting accounts to follow. Have a look at it: go.bsky.app/RsMKmCE Let’s build the ESHG community together!
🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies. Congratulations to all three teams! 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41...
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies - Nature Genetics
Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes…
nature.com
Excited to support ESHG-Young Committee activities and very happy to be part of this amazing team 💙
ESHG-Young@eshgyoung.bsky.social · 6mo agoWe’re happy to introduce our new associate and consultant members! Scroll to learn more about them and how they will support our ESHG-Young activities 💡 👉 @mriduljohari.bsky.social @teodorabarbarii.bsky.social @eshg.bsky.social
New epigene unlocked🧬
European Society of Human Genetics@eshg.bsky.social · 7mo ago📢 Out in AJHG: De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association. #RareDisease #NDD #EpiSignature www.cell.com/ajhg/fulltex...
Very pleased to share our latest paper published in Cell: BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants: Cell www.cell.com/cell/fulltex... @cellpress.bsky.social, @cp-cell.bsky.social, @ruizhideng.bsky.social #enhancer here is a thread about our findings:
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants
BRAIN-MAGNET, a convolutional neural network trained on 148,198 functionally tested non-coding regulatory elements, predicts enhancer activity directly from DNA sequence and identifies nucleotides ess...
cell.com
20th Manchester Dysmorphology and Developmental Disorders Conference opened with a warm welcome from @mft-imrare.bsky.social clinical director Prof Banka Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by @ddysmo.bsky.social 👑🧬 #MDC25
A feature in Nature examines the argument among researchers about if ‘novel’ AI-generated works should be considered plagiarism. #Academicsky 🧪
What counts as plagiarism? AI-generated papers pose new risks
Researchers argue over whether ‘novel’ AI-generated works use others’ ideas without credit.
go.nature.com
bioRxiv has a dedicated section for negative results. Use it. Share negative results. Your colleagues will appreciate it.
📢 Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST! 🧬 Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures" 💻 Registration is free but required: wma.eventsair.com/eshg-webinar... 📩 Past registrants will receive the Zoom link automatically.
New ENCODE4 long-read RNA-seq transcripts track for hg38 and mm10. Triplets (e.g. [1,1,3]) indicate start site, exon combination, and stop site for each transcript. Enrichment scores show how these change across tissue and cell line samples. Read more: genome.ucsc.edu/gold...
🚀 Thrilled to share our new review on how structural variants reshape 3D genome architecture and cause disease! 🧬🔀 Out now in Nature Reviews Genetics: www.nature.com/articles/s41... #3D-Genome #StructuralVariants #uksh
Structural variants in the 3D genome as drivers of disease - Nature Reviews Genetics
Disruption of the 3D genome caused by structural variation contributes to developmental disorders and cancer. The authors review the causes and molecular and clinical consequences of position effects ...
nature.com
📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST! 🧬 Speaker: Kaitlin Samocha on variant interpretation using population data 💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar... 📩 Past registrants will receive the Zoom link automatically.
New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases. #snRNAs www.nature.com/articles/s41...
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes - Nature Genetics
Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.
nature.com
I loved it once again! Thanks for everyone making #eshg2025 happen! #eshg2025 —> #eshg2026 Any suggestions for improvement ; ideas for topics and speakers? Await the formal survey by @eshg.bsky.social but you can also let me know personally: docs.google.com/document/d/1...
ESHG suggestions from participants
ESHG Feedback & suggestions Please add bullet points with suggestions for future ESHG conferences; think new/trending topics; speakers (amazing science and amazing presenters); formats; other options...
docs.google.com
ModelMatcher allows to find scientists with expertise in a gene, pathway etc that can help to provide additional evidence. #eshg2025
Oxford Nanopore Tech Update LC2025. My full analysis of what this means for NGS and Multi-Omics, including the new Proteomics PoC. open.substack.com/pub/albertvi...
Oxford Nanopore Tech Update LC2025 highlights
My highlights from the LC2025 announcements
open.substack.com
#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!
GertJan van Ommen Citation Awards: 1. Analysis of large-language model versus human performance for genetics questions. 2. Dutch Pharmacogenetics Working Group (DPWG) guideline 3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing #ESHG2025
#ESHG2025 Poster Prize: Honorary Mentions: - Ivana Džinovic (Munich, Germany) - Noemi Castelluccio (Ghent, Belgium) - Hilal Piril Saraçoglu (Istanbul, Turkey) - Chiara Leso (Turin, Italy) - Rhys Dore (London, United Kingdom)
Best Poster in Clinical Research Rebeka Luknárová, Munich, Germany P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
ESHG2025# Early Career awards: For outstanding science presented at the conference - Allison Newman, Exeter, UK - Hristiana Lyubenova, Berlin, Germany - Robin J. Hofmeister, Lausanne, Switzerland - Pau Clavell-Revelles, Barcelona, Spain
