🧬 New in Blood Advances! We analyzed ~500K UK Biobank participants to test whether digenic heterozygous FHL variants increase HLH risk. They don't. Present in ~0.1% but clinically silent - relevant for genetic counseling & newborn screening. @ukbiobank.ac.uk www.sciencedirect.com/science/arti...

Digenic and Multigenic Heterozygous FHL Genotypes Are Common but Clinically Silent in the General Population

Primary hemophagocytic lymphohistiocytosis is mainly caused by biallelic variants in genes disrupting cytotoxic NK- and T-cell function (PRF1, UNC13D,…

sciencedirect.com

Lausanne Comp Bio Symposium 2025 (cbiosymposium.unil.ch) 🗓 Abstract deadline 30 June (𝟑 𝐝𝐚𝐲𝐬 𝐭𝐨 𝐠𝐨!!!) 🎤 Oral presentation notifications: 7 July ✅ Early Bird registration deadline: 11 July 💰 Registration fee for non-PI: 150 CHF

🌟 The James Webb Space Telescope just discovered TWA 7b - a Saturn-sized planet which was directly imaged. This opens the door to finding Earth-like worlds - truly inspiring and highlighting endless possibilities ahead. ✨

CNRS@cnrs.fr · last yr.

#PressRelease🗞️ For the first time since its launch in 2021, the James Webb Space Telescope has enabled the discovery of a new exoplanet; it is located in the debris disk of a young star.🪐 👉 www.cnrs.fr/en/press/jam...

What a beautiful story and a mathematics milestone: researchers proved modularity for abelian surfaces, extending the breakthrough that solved Fermat's Last Theorem. 🧠✨

Quanta Magazine@quantamagazine.org · last yr.

The Langlands program seeks to unify seemingly disparate areas of math into a “grand unified theory of mathematics.” Recent work opens up a new portal between mathematical worlds. www.quantamagazine.org/the-core-of-...

🧬 Looking forward to presenting at the #ESHG2025! Our GWAS & EWAS studies of 10,000+ individuals reveal how genetics & epigenetics regulate trace element metabolism. Visit our poster P18.057.D today at 4pm! Huge thanks to @sfb1453.bsky.social, @zkutalik.bsky.social, and all collaborators involved!

Happy to have had the chance to contribute to this study!

SFB 1453 NephGen@sfb1453.bsky.social · 2y ago

What a nice way to start the new year! Check out our article on the influence of rare #genetic variants on human #metabolism in the current issue of Nature Genetics rdcu.be/d5ov1 Thanks to all collaborators and funders, @dfgpublic.bsky.social

Hello, Bluesky! 💙