ERN-EYE, Publications
New paper from ERN-EYE members
This article reports ocular phenotype and genetic findings in two Czech families with Sorsby fundus dystrophy, reviewing TIMP3 pathogenic variants.
Publications
Understanding genetic risk could save sight and predict multiple sclerosis earlier in young people
Publications
Publication in the Orphanet Journal of Rare Diseases
June 2023
Publications
New paper from ERN-EYE members
January 2023
Publications
New paper from ERN-EYE members: “Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa”
January 2023
ERN-EYE, ERNs, Publications
ERN-EYE Consensus Statement meeting for Bardet-Biedl Syndrome
October 2022
Publications
The Lancet Neurology – Diagnosis and classification of optic neuritis
September 2022
Publications
IRDIC State of play
August 2022
Publications
The Lancet Regional Health – Europe: ERNs’ actions to support rare diseases patients in context of the war in Ukraine
August 2022
Following the actions launched by the ERNs during the Ukrainian crisis, a short paper was published in The Lancet Regional Health - Europe.
ERNs, Publications
Unlocking the potential for rare disease therapies through wider collaborations between European Reference Networks and industry
July 2022
Prominent MEPs seeking quicker wins for rare disease patients are backing closer collaboration between ERNs and pharma companies through a novel multistakeholder initiative.