iiinova — where your digital self keeps evolving

npujol.bsky.social @npujol.bsky.social · 23/05/2025

so cool to be part of this work! check it out ⬇️✨

Reposted by @npujol.bsky.social

Andrew Johnson @adjomics.bsky.social · 09/05/2025

Now online in Blood, the largest genetic study to date of Heavy Menstrual Bleeding, reveals 36 Risk Loci. Most loci are not related to coagulation/hemostasis and instead other biological processes like hormone regulation and Wnt/beta-catenin signaling: pubmed.ncbi.nlm.nih.gov/40324064/

pubmed.ncbi.nlm.nih.gov

Genome-wide Meta-Analysis of Heavy Menstrual Bleeding Reveals 36 Risk Loci - PubMed

Heavy menstrual bleeding (HMB) is a widespread occurrence among women of reproductive age and inflicts a substantial impact on well-being and healthcare expenses. To better characterize the genetic ar...

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Reposted by @npujol.bsky.social

Lili Milani @lilimilani.bsky.social · 07/04/2025

Excited to share our recently published overview of the @estbiobank.bsky.social 🧬 We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years! www.nature.com/articles/s41...

nature.com

The Estonian Biobank’s journey from biobanking to personalized medicine - Nature Communications

Large-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for r...

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npujol.bsky.social @npujol.bsky.social · 17/03/2025

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! 💜

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npujol.bsky.social @npujol.bsky.social · 17/03/2025

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.

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npujol.bsky.social @npujol.bsky.social · 17/03/2025

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.

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npujol.bsky.social @npujol.bsky.social · 17/03/2025

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.

Key genes:
🧬 Genital tract development – WNT4, PAX8, WT1, SALL1
🧬 Hormonal regulation – FSHB, GREB1, BMPR1B, SYNE1/ESR1
🧬 Folliculogenesis – CHEK2

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npujol.bsky.social @npujol.bsky.social · 17/03/2025

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%).

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npujol.bsky.social @npujol.bsky.social · 17/03/2025

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! ⬇️

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npujol.bsky.social @npujol.bsky.social · 17/03/2025

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.

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