npujol.bsky.social
@npujol.bsky.social
👩‍💻 -omics and data-driven approaches to advance women's health
👉🏽 Postdoc at Life Sciences Dpt, BSC
🧬 PhD in female reproductive genomics 🇪🇪🇫🇮
📍Barcelona 🌍 music & travel enthusiast
7/ Huge thanks to my amazing mentor Triin Laisk and the brilliant PhD core teammates @jelisavetadzi.bsky.social, @rukinsv.bsky.social – what a journey! 🚀 Grateful to @estbiobank.bsky.social, @finngen.bsky.social, our collaborators & participants. Let’s keep pushing women’s health research forward! 💜
March 17, 2025 at 9:27 AM
6/ We also explored genetic risk prediction! 🧬
Fanny-Dhelia Pajuste developed a PRS for intrahepatic cholestasis of pregnancy (ICP)—a serious pregnancy complication, which was replicated in the HUNT study by @bnwolford.bsky.social. The PRS showed comparable predictive power to breast cancer PRS.
March 17, 2025 at 9:27 AM
5/ Population-specific genetic variants in Estonians & Finns helped identify novel genes for uterine fibroids. E.g. a missense variant in MYH11 which encodes for a smooth muscle myosin. A population-specific focus is particularly valuable, since it points at mechanisms relevant across populations.
March 17, 2025 at 9:27 AM
4/ By analyzing cross-trait genetic & phenotypic correlations, we found shared genetic factors across reproductive health conditions. This is important because identifying shared genetic mechanisms provides insights into shared and disease-specific processes.
March 17, 2025 at 9:27 AM
3/ We identified 195 genome-wide significant genetic signals, ~40% being novel. Notably, conditions with a metabolic component (e.g., some pregnancy complications) showed higher heritability (10-30%).
March 17, 2025 at 9:27 AM
2/ We analyzed genetic data from ~300,000 women in the Estonian Biobank & FinnGen to conduct GWAS meta-analyses for 42 female health diagnoses. This helped uncover risk factors & biological mechanisms behind these conditions. Follow below! ⬇️
March 17, 2025 at 9:27 AM
1/ The women’s health gap contributes to 75 million years of life lost due to health issues. Yet, many female-specific conditions remain under-researched, limiting prevention, diagnosis & treatment. Our study explores this using GWAS, which give hypothesis-free insights into biological processes.
March 17, 2025 at 9:27 AM