Mathieu Quinodoz
mquinodoz.bsky.social
Mathieu Quinodoz
@mquinodoz.bsky.social
Reposted by Mathieu Quinodoz
🧬 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
January 9, 2026 at 10:05 AM
Reposted by Mathieu Quinodoz
🧬 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
September 16, 2025 at 11:04 PM
Reposted by Mathieu Quinodoz
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 ...
www.biorxiv.org
June 9, 2025 at 10:35 AM