so well deserved! congratulations!!! @pclavell.bsky.social @melelab.bsky.social 🚀⭐️💫

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

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...

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/

Delighted to share that the revised version of this work on the genetic basis of infertility is now out in @naturegenet.bsky.social ! Give it a read and let us know what you think - rdcu.be/ehEgG 🧬💻

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...

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...

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! 💜

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.

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.

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

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.

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%).

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! ⬇️

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.

Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses - Nature Medicine This study provides a cross-trait atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.

📢 Excited to share our study in @natmedicine.bsky.social
👉 www.nature.com/articles/s41...
We mapped & characterized genetic risk factors for 42 female reproductive health diagnoses. What we found & why it matters? 👇🧵