The Support Programme for Patients with Hereditary Retinal Dystrophy, Launched in 2020, Will Continue in 2022

The programme is free of charge for patients and helps identify previously undiagnosed severe clinical forms of retinal pathology.

The Research Centre for Medical Genetics launched a comprehensive programme of hereditary retinal dystrophy’s DNA-diagnostics on the site of Medconnect for all regions of the Russian Federation in 2020. The programme is free of charge for patients. Regional doctors should submit participation applications for molecular-genetic examination presenting clinical research after registering on the site https://retinagene.ru/. That should be done according to the inclusion criteria. Logistics and a research process take shape following the approval procedure. The programme proved itself to be a unique additional clinical genetics resource and helped identify a group of patients (children and adults) suitable for gene replacement therapy. The programme helps identify undiagnosed severe clinical forms of retinal pathology and plan for possible treatment of such patients.

The curator of this programme is Vitaliy Kadyshev, Head of the Department of Ophthalmogenetics of the Institute of Higher and Supplementary Professional Education of RCMG, Senior researcher of the genetic epidemiology laboratory of RCMG, Supervisor of the scientific and clinical centre for eye diseases genetics of RCMG, MD (geneticist, ophthalmologist of the highest qualification) at the Research Centre for Medical Genetics, PhD, Professor of the Russian Academy of Natural History.