European Retinal Disease Consortium @erdc-team.bsky.social · 06/01/2026A podcast about RetiGene is now available on Spotify! open.spotify.com/episode/6WVx... @iobswiss.bsky.social @erdc-team.bsky.social #IRDs #VisionResearchopen.spotify.com141: RetiGene, a comprehensive gene atlas for inherited retinal diseases 021
European Retinal Disease Consortium @erdc-team.bsky.social · 18/09/2025Excellent 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. 021
Reposted by European Retinal Disease ConsortiumIOB - Institute of Molecular and Clinical Ophthalmology Basel @iobswiss.bsky.social · 17/09/2025🧬 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 186
Reposted by European Retinal Disease ConsortiumCarlo Rivolta @carlorivolta.bsky.social · 09/06/2025Happy 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...biorxiv.orgRetiGene, 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 ... 4135
European Retinal Disease Consortium @erdc-team.bsky.social · 06/05/2025Big blue skies in Salt Lake City 010
Reposted by European Retinal Disease ConsortiumElfride De Baere @elfridedebaere.bsky.social · 05/05/2025@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 084
Reposted by European Retinal Disease ConsortiumElfride De Baere @elfridedebaere.bsky.social · 04/05/2025A 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 051
Reposted by European Retinal Disease ConsortiumRandall Munroe @xkcd.com · 26/02/2025RNA xkcd.com/3056 154177422542
Reposted by European Retinal Disease ConsortiumIOB - Institute of Molecular and Clinical Ophthalmology Basel @iobswiss.bsky.social · 12/03/2025New 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 #Ophthalmologycell.comBi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyWe 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... 0129
