Beatriz Urda
beatrizurda.bsky.social
Beatriz Urda
@beatrizurda.bsky.social

PhDing at Barcelona Supercomputing Center | Exploring disease co-occurrences through omics, bioinformatics & HPC — with an eye on AI bias, and occasionally covered in clay.
8/ Science already takes time, I hope to help make it worth it.

Finally, terrified, we sent it to PNAS @pnas.org.
After one round of review, reports came back: supportive. Positive.
Accepted 🎉 🎉
September 2, 2025 at 6:37 PM
1/ Everything that could go wrong in paper publishing… did.
A story of patience, absurdity, and persistence 🌀 <1min

From Alfonso Valencia’s lab and a very stubborn PhD student (me).
September 2, 2025 at 6:37 PM
6/ Beyond known links, our approach points to potentially underdiagnosed comorbidities with strong molecular evidence and therapeutic implications.

We made it all explorable here 👉 disease-perception.bsc.es/rgenexcom/
September 2, 2025 at 11:42 AM
5/ We propose mechanistic models for disease co-occurrences 🔎

- Immune dysregulation was the most common thread
- Specific genes & pathways highlight therapeutic implications
- Even inverse comorbidities emerge (Huntington’s vs cancers, with opposite transcriptional programs)
September 2, 2025 at 11:42 AM
4/ But patients aren’t homogeneous.
So we stratified them into subgroups with similar gene expression profiles.

This boosted recall to 64% with consistent precision.
And crucially, it revealed numerous subgroup-specific comorbidities.
September 2, 2025 at 11:42 AM
3/ We built a disease network from large-scale RNA-seq data on human diseases.

👉 It significantly captures ~50% of known comorbidities, far outperforming previous attempts.
September 2, 2025 at 11:42 AM
🚨 New in PNAS!
🧬 64% of disease co-occurrences can be explained by transcriptomic similarities.

Comorbidities aren’t random—they have a molecular basis.

Here’s how we found it 👇 (1/n)

🔗 doi.org/10.1073/pnas.2421060122

@alfonsovalencia.bsky.social
September 2, 2025 at 11:42 AM