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Mathieu Quinodoz

@mquinodoz.bsky.social

IOB - Institute of Molecular and Clinical Ophthalmology Basel @iobswiss.bsky.social · 8mo ago

🧬 Major breakthrough: IOB researchers identify new genetic cause of inherited blindness in overlooked RNA genes. The discovery solves decades-old diagnostic mystery and opens new pathways for many patients worldwide. ➡️ www.nature.com/articles/s41... #AcademicBlueSky #Genetics #VisionResearch #IRDs

IOB - Institute of Molecular and Clinical Ophthalmology Basel @iobswiss.bsky.social · 12mo ago

🧬 How can we navigate the genetic complexity of inherited retinal diseases? Our new paper in @ajhgnews.bsky.social presents RetiGene, a curated atlas of IRD genes, built with @erdc-team.bsky.social, to support diagnosis, research and therapy. 👉 bit.ly/467U1S9 #AcademicBlueSky #IRDs #VisionResearch

Carlo Rivolta @carlorivolta.bsky.social · last yr.

Happy to announce that the preprint about Retigene, our new gene atlas for inherited retinal diseases, is now on-line. www.biorxiv.org/content/10.1...

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic ...

biorxiv.org