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Teodora Barbarii

@teodorabarbarii.bsky.social
227 followers 364 following 23 posts

Medical geneticist studying rare neurodevelopmental and neurogenetic disorders. PhD student at University of Manchester

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Reposted by Teodora Barbarii
Nature Portfolio @natureportfolio.nature.com · 26/08/2026
Dolly Parton left a mark on science, public health and education. She donated to medical centres, vaccine research, and disaster relief, and had one of the most famous animals in science named after her: Dolly, the cloned sheep. Scientists are paying tribute to her. 🧪
go.nature.com
Dolly Parton dies aged 80 – researchers celebrate her contributions to science
The country singer was an advocate for vaccines, public health, literacy and marginalized communities.
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Reposted by Teodora Barbarii
European Society of Human Genetics @eshg.bsky.social · 06/08/2026
🧬 #ESHG Syndromology & Dysmorphology Course 📅 14–16 October 2026 📍 Manchester, UK The curriculum will cover clinical approach, dysmorphology, genomics, mechanisms, treatments and the patient voice in genomic syndromology. 👉 Register now: www.mrcc.org.uk/events/manch... #Genetics #Dysmorphology
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European Society of Human Genetics @eshg.bsky.social · 18/06/2026
🗳️ 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
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Teodora Barbarii @teodorabarbarii.bsky.social · 14/06/2026
This sounds so exciting. Really looking forward to it! #eshg2026
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Reposted by Teodora Barbarii
Agnes Caruso @agnescaruso.bsky.social · 14/06/2026
Preview of the gnomAD-LR browser. Phased haplotypes and methylation will be available. The browser is coming this summer. #eshg2026
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Reposted by Teodora Barbarii
Agnes Caruso @agnescaruso.bsky.social · 14/06/2026
What has been your favorite session of #esgh2026 so far?
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Teodora Barbarii @teodorabarbarii.bsky.social · 14/06/2026
Great session about the importance of splicing in diagnosis and treatment of rare disorders! #eshg2026
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Teodora Barbarii @teodorabarbarii.bsky.social · 14/06/2026
The amazing ESHG-Young Matchmaking event! @eshgyoung.bsky.social @eshg.bsky.social
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Reposted by Teodora Barbarii
Tom Wright @tomwrightuom.bsky.social · 13/06/2026
👋🧬 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
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James Fasham @jamesfasham.bsky.social · 13/06/2026
Caroline Wright (Exeter) sharing fundamental knowledge What does the "average" human genome look like?" >900k 🧬 #UKB / #AllofUs / Genome: 1️⃣ ~4.4–5.5 million variants 2️⃣ 2–3 ClinVar P/LP (mostly AR) 3️⃣ ~62–70 de novo variants 4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease
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Teodora Barbarii @teodorabarbarii.bsky.social · 12/06/2026
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
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European Society of Human Genetics @eshg.bsky.social · 31/03/2026
🧬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...
nature.com
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…
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Teodora Barbarii @teodorabarbarii.bsky.social · 20/02/2026
Excited to support ESHG-Young Committee activities and very happy to be part of this amazing team 💙
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Teodora Barbarii @teodorabarbarii.bsky.social · 02/01/2026
New epigene unlocked🧬
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Reposted by Teodora Barbarii
Stefan Barakat @stefanbarakat.bsky.social · 20/11/2025
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:
cell.com
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...
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Tom Wright @tomwrightuom.bsky.social · 16/11/2025
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
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Nature Portfolio @natureportfolio.nature.com · 25/08/2025
A feature in Nature examines the argument among researchers about if ‘novel’ AI-generated works should be considered plagiarism. #Academicsky 🧪
go.nature.com
What counts as plagiarism? AI-generated papers pose new risks
Researchers argue over whether ‘novel’ AI-generated works use others’ ideas without credit.
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Reposted by Teodora Barbarii
Nikolai Slavov @slavov-n.bsky.social · 24/07/2025
bioRxiv has a dedicated section for negative results. Use it. Share negative results. Your colleagues will appreciate it.
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Reposted by Teodora Barbarii
European Society of Human Genetics @eshg.bsky.social · 17/07/2025
📢 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.
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Reposted by Teodora Barbarii
UCSC Genome Browser @genomebrowser.bsky.social · 16/07/2025
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...
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mspielmann.bsky.social @mspielmann.bsky.social · 07/07/2025
🚀 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
nature.com
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 ...
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Reposted by Teodora Barbarii
European Society of Human Genetics @eshg.bsky.social · 16/06/2025
📢 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.
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European Society of Human Genetics @eshg.bsky.social · 02/06/2025
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...
nature.com
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.
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Reposted by Teodora Barbarii
Alex Hoischen @ahoischen.bsky.social · 29/05/2025
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...
docs.google.com
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...
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Agnes Caruso @agnescaruso.bsky.social · 27/05/2025
ModelMatcher allows to find scientists with expertise in a gene, pathway etc that can help to provide additional evidence. #eshg2025
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Albert Vilella, PhD. @albertvilella.bsky.social · 27/05/2025
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...
open.substack.com
Oxford Nanopore Tech Update LC2025 highlights
My highlights from the LC2025 announcements
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Agnes Caruso @agnescaruso.bsky.social · 27/05/2025
Solvathons are a large team efforts to solve rare disease cases. #eshg2025
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
#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!
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
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
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
#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)
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
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"
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
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
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
#ESHG2025 Isabelle Oberlé Award: Best presentation by an ECR on research concerning the genetics of intellectual disability. Natalie B. Tan, Parkville, Australia "UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
#ESHG2025 Mia Neri Award for best presentation in cancer research. Jingzhan Lu,Exeter, United Kingdom "Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
ESHG Mentorship scheme awardees 2025 • Nesibe Bulut Turkey to Vienna, Austria • Tea Mladenić Croatia to Jena, Germany • Melda Erdoğdu Turkey to Linköping, Sweden • Lein Dofash Australia to Exeter, UK • Daniela Oliveira Portugal to Stockholm, Sweden #ESHG2025
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European Society of Human Genetics @eshg.bsky.social · 27/05/2025
ESHG Observership scheme awardees 2025 • Purvi Majethia India to Manchester, UK • Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden • Juliana Miranda Cerqueira Finland to Cambridge, UK • Vanessa Sousa Portugal to Leuven, Belgium • Sílvia Pires Portugal to Jena, Germany #ESHG2025
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Pilar Cacheiro @pilarcacheiro.bsky.social · 27/05/2025
Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS. @ESHG2025
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Juliana Miranda Cerqueira @julianamiranda.bsky.social · 27/05/2025
Wrapping up the last concurrent session at #eshg2025! At the Gold Plenary “C32 Beyond common variants – pop sequencing and CNVs” delivered outstanding methods. From haplotype-informed analyses, meta-analyses to genetic diversty—pushing the frontier in decoding rare variants and complex traits. #gwas
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James Fasham @jamesfasham.bsky.social · 27/05/2025
Vicente Yepez #ESHG2025 Rare Disease multi-OMICs Solvathons - a disease solving hackathon - make sure you have consent to share Integrated multi-omics in parallel is best DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)
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James Fasham @jamesfasham.bsky.social · 26/05/2025
The band are warming up for tonight! 🎸🎶 #ESHG2025
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Teodora Barbarii @teodorabarbarii.bsky.social · 26/05/2025
@ritamatos.bsky.social inviting us to follow ESHG-Young SM accounts @eshgyoung.bsky.social, mainly Instagram and bsky #eshg2025
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Teodora Barbarii @teodorabarbarii.bsky.social · 26/05/2025
Come to our SM workshop at Sequencing Square #eshgh2025! @jamesfasham.bsky.social @eshg.bsky.social @eshgyoung.bsky.social
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Teodora Barbarii @teodorabarbarii.bsky.social · 26/05/2025
Multiomics approaches enabled identification of a rare CCG repeat expansion that leads to hypermethylation and silencing of BCLAF3 in undiagnosed patients with NDD #eshg2025 -Methylation array: DMRs identif -srWGS: STR identif -RNAseq: gene silencing -LR ONT: validation of methylation+expansion
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Teodora Barbarii @teodorabarbarii.bsky.social · 26/05/2025
Proteomics using proximity extension assays on the 100kGP cohort increased diagnostic yield (VUS reclassification) for rare disorders and prioritized genes for targeted WGS reanalysis #eshg2025
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Agnes Caruso @agnescaruso.bsky.social · 26/05/2025
If you are a member of @eshg.bsky.social do not forget to join the general meeting today at 12:15 #eshg2025
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Nelson Martins @nelsonm1224.bsky.social · 25/05/2025
📍Second day of #ESHG2025 and here’s a quick recap of this morning’s sessions: 🧬 W04 – Long-read sequencing for beginners A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!
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Agnes Caruso @agnescaruso.bsky.social · 25/05/2025
What types of variants are most commonly missed? #eshg2025
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Teodora Barbarii @teodorabarbarii.bsky.social · 25/05/2025
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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Teodora Barbarii @teodorabarbarii.bsky.social · 25/05/2025
Very nice educational session on how to detect difficult variants on IGV with LRGS! #eshg2025
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James Fasham @jamesfasham.bsky.social · 24/05/2025
Phasing ✅ Parent of Origin ✅ SV resolution ✅ from *short* read WGS with @illumina Constellation technology Haven't heard about this yet? - see P23.008B at #ESHG2025 @ExeterGenomes @nihrexeterbrc.bsky.social @exeter.ac.uk
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