141: RetiGene, a comprehensive gene atlas for inherited retinal diseases

A podcast about RetiGene is now available on Spotify! open.spotify.com/episode/6WVx...
@iobswiss.bsky.social @erdc-team.bsky.social #IRDs #VisionResearch

141: RetiGene, a comprehensive gene atlas for inherited retinal diseases

A podcast about RetiGene is now available on Spotify! open.spotify.com/episode/6WVx...
@iobswiss.bsky.social @erdc-team.bsky.social #IRDs #VisionResearch

Excellent meeting last week in Nijmegen! Thanks a lot Susanne for the excellent organization and for serving as Chair of the ERDC for so many years! We are all very much indebted to you.

🧬 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

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 ...

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...

Big blue skies in Salt Lake City

@karkam.bsky.social (#1919) presented exciting discoveries on AP-5 disease at at #ARVO2025 This is a novel Lysosomal Macular Dystrophy and also defines a new RPE disease. Great collaboration of the ERDC www.erdc.info @carlorivolta.bsky.social
#maculardystrophy #lysosomal #AP5 #RPEdisease

A great start to #ARVO2025 in Salt Lake City!
We kicked off the week with the biannual meeting of the European Retinal Disease Consortium (ERDC) www.erdc.info
🧬 Collaboration drives progress - together, we are stronger 🧬

#ERDC #retinalresearch #collaboration #ARVO2025

RNA xkcd.com/3056

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy We discovered genetic changes in three genes (AP5Z1, AP5M1, and AP5B1) that cause macular degeneration, affecting sharp central vision. The proteins encoded by these genes form a complex that helps th...

New hope for inherited vision loss
IOB researchers (@karkam.bsky.social, @carlorivolta.bsky.social, @mquinodoz.bsky.social, @abimoye.bsky.social) identify AP5Z1, AP5M1, AP5B1 mutations, revealing new causes of macular dystrophy.
🔗 www.cell.com/ajhg/fulltex...
#AcademicBlueSky #Ophthalmology