A scientific and personal journey from just 145 base-pairs to thousands of newly diagnosed patients — Computational Rare Disease Genomics In the last two years my science world has been turned completely upside down. The starting point: a discovery in early 2024 of a highly prevalent yet previously unrecognised neurodevelopmental disord...

I wrote a new blog post: www.whiffinlab.org/blog/rnuopat...

Trying to put the past two years of research into snRNA genes and RNUopathies into broader context (even from within the field it is hard to keep up!), with a personal tilt 💙🧬

@renusyndrome.bsky.social #renuSyndrome #rnuopathies