AnnaEsteveCodina

Functional Genomics Team Leader @cnag_eu

[Asociación Española de Genética Humana (AEGH) @AEGHgenetica]

Primera sesión del #CongresoGenética26 destinada a las mejores comunicaciones orales.

Una sesión variada que traslada estudios genéticos aplicados a enfermedades raras, cáncer hereditario, asesoramiento genético en España o la exposición prenatal al fentanilo 🤰🧬

[Asociación Española de Genética Humana (AEGH) @AEGHgenetica]

Mejores comunicaciones orales en el #CongresoGenética26

10 ponencias donde se han acercado los últimos estudios y ensayos clínicos punteros en genética, asesoramiento genético y diagnóstico prenatal.

#EspecialidadesGenéticaYA

[CNAG @cnag_eu]

🙌 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

[CNAG @cnag_eu]

🚀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

https://t.co/vRE2CCRZF6

[AnnaEsteveCodina @AEsteveCodina]

Apply any of these PhD/ postdoc funding calls to work with rare disease multiomics, pangenome, episignatures, repetitive elements: https://t.co/p1fvIRheum

[CNAG @cnag_eu]

📣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)

👉 https://t.co/hGkHASLjVK
#CNAGSymposium #CNAG

[CNAG @cnag_eu]

🌍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

[CNAG @cnag_eu]

🚨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
https://t.co/MlgUpajh67

By @NGSCN_de & @UniklinikAachen
#Genomics #RareDiseases #CNAG

[CNAG @cnag_eu]

💜 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!

[CNAG @cnag_eu]

🙌¡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

[CNAG @cnag_eu]

📢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

📎https://t.co/RMs4DEjaC4

[CNAG @cnag_eu]

🙌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

https://t.co/lVScqq1MOg
#RareDiseases #CNAG @genomeresearch @ERDERA_org

[CNAG @cnag_eu]

🚨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
🔗 https://t.co/bATayQMwG6
#CNAG

[CNAG @cnag_eu]

📢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)

🔗https://t.co/bATayQN4vE
#Jobs #Hiring #Genomics #ResearchJobs

[CNAG @cnag_eu]

🌍 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

[CNAG @cnag_eu]

📢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)

📎https://t.co/Dvc07rbndM
#RareDiseases

[Ming "Tommy" Tang @tangming2005]

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 https://t.co/CibFVLUh9v

[Ming "Tommy" Tang @tangming2005]

7/
In Tabula Muris and Tabula Sapiens, MALAT1 expression was tightly correlated with nuclear RNA content and intronic fractions. https://t.co/BnybzBNdSF

[European Society of Human Genetics (ESHG) @eshgsociety]

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"

[CNAG @cnag_eu]

🙌 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