European Retinal Disease Consortium
@erdc-team.bsky.social
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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.
3 months ago
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European Retinal Disease Consortium
IOB - Institute of Molecular and Clinical Ophthalmology Basel
3 months 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
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Carlo Rivolta
6 months ago
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...
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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 ...
https://www.biorxiv.org/content/10.1101/2025.06.08.653722v1
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Big blue skies in Salt Lake City
7 months ago
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European Retinal Disease Consortium
Elfride De Baere
7 months ago
@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
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European Retinal Disease Consortium
Elfride De Baere
7 months ago
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
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European Retinal Disease Consortium
Randall Munroe
10 months ago
RNA
xkcd.com/3056
155
17901
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European Retinal Disease Consortium
IOB - Institute of Molecular and Clinical Ophthalmology Basel
9 months ago
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
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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...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00062-X
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