In recent years, genetic studies have made remarkable discoveries related to human vision and hereditary eye disorders. However, the identified genes and mutations account for only a proportion of cases of inherited retinal degeneration, indicating the need for further research into the genetics of eye disorders. Currently, DNA screening finds 60 % of the genetic defects that cause inherited retinal disorders. Some of the mutations lie in genes not yet associated with eye diseases, while others affect known genes but are not found by current screening techniques. Understanding the underlying biology of eye diseases requires elucidation of the types of mutations involved, the function of the affected proteins and how they contribute to blindness. The EU-funded EYETN project set up a network to train the next generation of vision researchers. The collaborative consortium comprised academic, healthcare and commercial research institutions and investigated the cause of a number of eye diseases. A total of ten early stage researchers and one experienced researcher were recruited. In addition to carrying out academic research, the fellows trained with commercial partners and attended workshops on translating discoveries into therapies and commercially viable products. Researchers discovered novel genes and variants implicated in retinal disorders alongside microRNAs that regulate gene expression in the retina and affect development. Work on familial exudative vitreoretinopathy, a condition resulting from a defect of retinal vascular development, an extremely variable condition, led to the discovery of genes and variants that may moderate severity. Various disease models were employed to determine the mechanisms involved in several blinding disorders. In another part of the project, scientists obtained retina-like stem cells from the skin of patients with retinitis pigmentosa and discovered that the disease affects the primary cilia. From a therapeutic perspective, researchers tested the response of large cohorts of patients with age-related macular dystrophy to anti-VEGF therapy, a common cause of blindness in the elderly. In addition, several genetic variants predictive of treatment response were identified alongside disease biomarkers. Taken together, the findings of the EYETN study have immediate translational value in improving genetic testing outcomes and offering new therapies to patients affected by retinal pathologies.
Eye research, EYETN, familial exudative vitreoretinopathy, age-related macular dystrophy, biomarker