AnnaEsteveCodina

🙌 Thrilled to contribute at CNAG! @AEsteveCodina and Joan Pedrosa from our Functional Genomics Team analysed scRNA-seq & scTCR-seq in this research, which could pave the way for new gene therapy strategies for this rare immune disorder #Genomics #RareDiseases #CNAG

🚀New paper out! Led by @VHIR with CNAG collaboration, the study reports an impressive case where the immune system spontaneously restored function in a patient with CD137 (4-1BB) deficiency, representing the first described somatic reversion in TNFRSF9 nature.com/articles/s4152…

Apply any of these PhD/ postdoc funding calls to work with rare disease multiomics, pangenome, episignatures, repetitive elements: cnag.eu/jobs/phd-postd…

📣The official programme for the 14th CNAG Symposium is live! 9⃣ Leading experts will share cutting-edge insights in #CancerGenomics, don’t miss it! 🗓️ Dec 16 | 09:00–16:15 📍 Auditori Antoni Caparrós, @PCB_UB (Barcelona) 👉 cnag.eu/events/14th-cn… #CNAGSymposium #CNAG

🌍Yesterday, our PhD student @tmontsay from the Functional Genomics Team presented his poster at #EMBOMobileGenome on 'A Comprehensive Annotation of Conserved Protein Domains in Human Endogenous Retroviruses' 🙌Excellent work and insightful discussions! @AEsteveCodina

🚨Webinar alert! Today, our Functional Genomics Team Leader, @AEsteveCodina, will discuss the value of RNA-seq and long-read genome and methylome data in rare disease diagnosis 🗓️11:00 CEST rwth.zoom.us/meeting/regist… By @NGSCN_de & @UniklinikAachen #Genomics #RareDiseases #CNAG

💜 Even better news from the #Unicas_Hackathon! 5⃣ families have finally received a diagnosis after 48 hours of intense collaboration among international experts A huge step forward for #RareDiseases and, most importantly, for these children Proud to be part of this initiative!

🙌¡Maratón por las enfermedades raras! 💜Ayer empezaba el primer Únicas Hackathon, un encuentro de clínicos, investigadores y genetistas para hallar el diagnóstico de 12 casos pediátricos en 48 horas 🧬Como colaboradores, nuestro equipo fue hasta Murcia para ayudar a la causa

📢New paper out in @NatureGenet! ✨CNAG coordinates the Solvathons, a groundbreaking pan-European initiative for rare disease diagnosis @Solve_RD launched these interdisciplinary workshops, which have led to 100 new diagnoses for rare disease families 📎cnag.eu/news/cnag-coor…

🙌New advances on rare diseases! Within the @Solve_RD, @PacBio HiFi long-read whole-genome sequencing has proven instrumental in uncovering previously undetectable genetic variants, leading to new diagnoses genome.cshlp.org/content/35/4/7… #RareDiseases #CNAG @genomeresearch @ERDERA_org

🚨New job offer! ➡️Join the Functional Genomics Team at CNAG as a Bioinformatician to work on the SEED-ALS Spain project, a national initiative focused on understanding and treating Amyotrophic Lateral Sclerosis (ALS) 🗓️ Apply by 30 September 🔗 cnag.eu/jobs #CNAG

📢We’re hiring! Join our team at CNAG and help advance genomics research! Check out our new positions: ➡️Bioinformatician (Functional Genomics Team) ➡️PhD Student - Computational Biologist (Single Cell Team) 🔗cnag.eu/jobs #Jobs #Hiring #Genomics #ResearchJobs

🌍 Today is World RNA Day! Discover with our Functional Genomics Team Leader, @AEsteveCodina, why RNA is a vital biological key: essential for advancing research in cancer, rare diseases 🌟At CNAG, we study RNA to improve people's health and quality of life #RNADay #RNA #CNAG

📢New paper in Neuromuscular disorders (@WorldMuscleSoc)! 🧬A study helped identify a new genetic variant in the TNNT3 gene causing a rare muscle disorder in two siblings, thanks to a multi-omics approach (genomics and transcriptomics) 📎nmd-journal.com/article/S0960-… #RareDiseases

4/ Low MALAT1 levels (e.g., <1% of median) are reliable indicators of damaged cells or low-quality nuclei in snRNA-seq. read 10x Q&A kb.10xgenomics.com/hc/en-us/artic…

7/ In Tabula Muris and Tabula Sapiens, MALAT1 expression was tightly correlated with nuclear RNA content and intronic fractions. bmcgenomics.biomedcentral.com/articles/10.11…

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"

🙌 Really excited about this recognition! Congratulations to our partners from @TU_Muenchen — Rebeka Luknárová, @vaym88, and Julien Gagneur — together with our Functional Genomics Team Leader at CNAG, @AEsteveCodina, and @Solve_RD #research #eshg2025 #bestposter

🔥Non-stop on the last day of #eshg2025! 🗣️This morning we joined the oral presentation of our partner @vaym88 (@TU_Muenchen): 'Rare Disease Solvathons – the power of multi-omics data integration'. Truly inspiring work! #RareDiseases #CNAG #GenomicsIsInOurDNA #Research

🧬Great presentation by our Functional Genomics Team Leader, @AEsteveCodina, at #eshg2025! 🗣️She showcased our work on “Integrative multi-omics for undiagnosed Rare Diseases (Omics-RD)” 👏 Congratulations, Anna, and well done to the team behind this project! #RareDiseases #CNAG