Javi Martínez-López

Identifican nuevas claves moleculares que podrían guiar el manejo clínico de la enfermedad de Erdheim–Chester

El @ipblncsic.bsky.social marca un punto de inflexión con su estudio de esta enfermedad, analizando y combinando por primera vez datos de metilación del ADN y expresión génica

t.ly/MCs11

We’d like to know too… #graphicmedicine #rheumsky #medsky

For the next three months I am doing a stay at the University of Manchester! Prof. Gisela Orozco's lab, in a project working on ATAC-seq and CUT&Tag data. Happy to be here!! 🌸
(also my first time in the UK! 😊)
@manchester.ac.uk

Genome‐wide DNA methylation study reveals specific signatures in the affected arterial tissue of giant cell arteritis patients Objectives Giant cell arteritis (GCA) is a large-vessel vasculitis, potentially causing complications such as blindness and strokes. This study aims to gain insights into the pathogenesis of GCA by ...

New paper just out (online first) in Arthritis & Rheumatology! 🎉

We mapped the epigenetic changes (DNA methylation) in GCA-affected arteries. Largest cohort to date; findings point to new pathways relevant to disease mechanisms 🧵

Read: doi.org/10.1002/art....

cc @ipblncsic.bsky.social

To be part of the 19th SSc Workshop in Cambridge was an amazing experience! It was a privilege to have had the opportunity to give a talk about massively parallel reporter assays (MPRAs). And with that… it’s summer time! 🌞✨

These past days I had the amazing opportunity to attend the International Workshop on Scleroderma Research in Cambridge. Thanks to the SCTC for awarding me with a Workshop Travel Award 🙌🏻

If you want some immune cells for your slides, here’s what you’re looking for🙌🏻

SOOOO MANY GENOMICS MODELSSSS! 😱 Often unclear which is best since they benchmark differently! In this preprint, we introduce GAME, a new framework that utilizes APIs to enable sustainable, uniform model evaluation so we can see which is actually best for each task. doi.org/10.1101/2025...

Methods and applications for single-cell and spatial multi-omics Nature Reviews Genetics - In this Review, the authors discuss the latest advances in profiling multiple molecular modalities from single cells, including genomic, transcriptomic, epigenomic and...

Methods and applications for single-cell and spatial multi-omics go.nature.com/3GkzmzZ #Review by Katy Vandereyken, Alejandro Sifrim, @bernthie.bsky.social & Thierry Voet
Free to read here: rdcu.be/c6JjL

A photo of me with the poster I presented about the association of C4 copy number variation in systemic sclerosis subtypes.

A selfie of Laura, Gonzalo and me (left to right) in the EULAR2025 photocall.

EULAR2025 has come to an end! I learned a lot, met amazing people, and had a great time with @goboru.bsky.social and @lauramg22.bsky.social. Really enjoyed it! ✨✨

Last day of EULAR! Here's a thread 🧵 of my (very personal) takeaways from #EULAR2025 on giant cell arteritis (GCA)! Keep in mind that as someone focused on basic research, my EULAR schedule was definitely biased in that direction #GCA #rheumsky

Great presentation by my lab mate @inmaculadaroma.bsky.social ✨
Sex-aware science is something to stand strong for ✊

🎓 En el #WIPSeminar de hoy, Inma ha explicado los resultados preliminares de su investigación acerca del perfil genético con enfoque de sexo que revela la relevancia de IL12RB2 como un locus específico en mujeres en la #EsclerosisSistemica 🧬

Role of X chromosome and dosage-compensation mechanisms in complex trait genetics We show that the X chromosome, understudied in genome-wide association studies, contributes to complex traits in a manner shaped by dosage-compensation mechanisms. We find near-full X inactivation bal...

One thing still missing in many GWAS pipelines: chrX analysis... In this study from @ajhgnews.bsky.social, Mefford et al. explore X-GWAS across 48 UKBB traits and as expected, ~3% of trait heritability comes from chrX.
Looks like it’s time we start doing this! www.cell.com/ajhg/fulltex...

Congratulations!!! ✨

Excited to share that our abstract for #EULAR was selected as one of the Top 10 Abstracts at EULAR 2025 by EMEUNET! 🙌🥰
Huge thanks to the committee, I’m truly honored!
Hope to see you in Barcelona! #EMEUNET #EULAR2025

Today marks #WorldImmunologyDay 2025: The immune system and your brain. Multiple system atrophy is a rare synucleinopathy that affects the nigrostriatal system, pons, cerebellum, inferior olives, brainstem and spinal cord. Learn more: https://www.nature.c...

The Spanish Polygenic Score reference distribution: a resource for personalized medicine - European Journal of Human Genetics European Journal of Human Genetics - The Spanish Polygenic Score reference distribution: a resource for personalized medicine

Happy to see our paper on "The Spanish Polygenic Score reference distribution: a resource for personalized medicine" out nature.com/articles/s41... this is a collaborative effort of the CIBERER, Navarrabiomed and other groups across Spain @ibis-investigacion.bsky.social

¿Conoces #HuMicA! 🌟 Investiga el papel de la microglía en enfermedades neurodegenerativas y su potencial terapéutico. Te lo cuentan sus autores en #RevistaSEBBM
https://f.mtr.cool/stowmipiea

April Arthritis & Rheumatology In This Issue & Journal Club banner

In This Issue:
•Epigenetic myeloid dysregulation in SSc
•Incidence of JIA increases with latitude in Norway cohort
•FoxO1 deficiency in M-MDSCs exacerbates B cell dysfunction in SLE
•Journal Club: Body pain diagram to describe nonarticular pain evolution in 1st year of RA dx

acr.tw/4hLtPzi

#Medsky

We're going to EULAR 25! ✨

Good news! I will be presenting at EULAR 25 our new work about the genetics of GCA-related clinical manifestations ✨

🎓En el WIP de hoy, nuestra compañera, la doctora Miriam Cerván ha explicado sus últimos resultados del análisis del perfil molecular de la enfermedad de #ErdheimChester a partir de la integración del #metiloma y el #transcriptoma de pacientes🧬

📢 ESTA SEMANA EN EL IPBLN:

#WIPSeminar de Miriam Cerván Martín:

‘Unraveling the Molecular Landscape of Erdheim-Chester Disease: New insights from Methylome and Transcriptome Integration’

📅 Martes 25 de marzo
🕙 10:00h

Mike spotted this before the rest of us. 🫡

Publications from 2025 are shared more on Bluesky than on X/Twitter.

This month's cover in @science.org by Adam Simpson #CoverArtGallery

A great example to start this section is Mal-ID (MAchine Learning for Immunological Diagnosis). A cool acronym for the method presented in this paper that uses machine learning to predict disease status from BCR & TCR repertoires. A great name for an impressive work! www.science.org/doi/10.1126/...

Bioinformatics tools often have odd names—some are straightforward acronyms (e.g., BLAST: 'Basic Local Alignment Search Tool'), while others creatively pick letters to form unique names. I’ll be sharing some of the more interesting and fun ones I come across here! 🖥️✨

I used to compete all the time and I think I only won once 😂 But it was worth it for the extra motivation to polish those plots 🔝

A few years ago, we started a fun 'Plot of the Month' competition. Each member made a plot with their data and shared the code to learn ggplot2 together. At the end of the month, we’d vote for the best one, and the winner kept a cute trophy for the next month. It made plotting way more fun!