James Fasham

jamesfasham.bsky.social

16 July 2026 15:34

DECIPHER continues to be actively developed Your feedback will help the team understand users’ experiences and identify possible improvements. Ive just done it, it takes less than 5 mins!

Atlas of Variant Effects Alliance

varianteffect.bsky.social

27 February 2026 16:17

It's Rare Disease Day tomorrow. Rare diseases affect just 3.5–5.9% of the population. But did you know that 72% of rare diseases have a genetic cause? In this blog, Prof. Matt Hurles reflects on one AVE Alliance group's work in rare diseases: sangerinstitute.blog/2025/02/28/f... #RareDiseaseDay

Unique

uniquecharity.bsky.social

27 February 2026 16:05

This #RareDiseaseDay, we’re highlighting how open data sharing supports diagnosis, research, and families living with rare conditions. Watch to find out how access to rare data through @deciphergenomics.bsky.social can help families better understand their children’s rare conditions.

EMBL-EBI

ebi.embl.org

27 February 2026 16:05

This #RareDiseaseDay, we’re highlighting how open data sharing supports diagnosis, research, and families living with rare conditions. Watch to find out how access to rare disease data through @deciphergenomics.bsky.social can help families better understand their children’s rare conditions.

Nicky Whiffin

nickywhiffin.bsky.social

04 February 2026 20:54

Today I am wearing #blue4ReNU for ReNU Syndrome awareness day 💙 4th February (or 4/2), was chosen by families to reflect the 4-2 in RNU4-2 🧬 ReNU syndrome is a severe neurodevelopmental disorder impacting ~100,000 individuals globally 🧠 🌎 lnkd.in/dvruKxZH #ReNUSyndrome @renusyndrome.bsky.social