Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

Retinitis pigmentosa (RP) represents a genetically heterogeneous group of retinal dystrophies affecting mainly the rod photoreceptors and in some instances also the retinal pigment epithelium (RPE) cells of the retina. Clinical symptoms and disease progression leading to moderate to severe loss of vision are well established and despite significant progress in the identification of causative genes, the disease pathology remains unclear. Lack of this understanding has so far hindered development of effective therapies. Here we report successful generation of human induced pluripotent stem cells (iPSC) from skin fibroblasts of a patient harboring a novel Ser331Cysfs*5 mutation in the MERTK gene. The patient was diagnosed with an early onset and severe form of autosomal recessive RP (arRP). Upon differentiation of these iPSC towards RPE, patient-specific RPE cells exhibited defective phagocytosis, a characteristic phenotype of MERTK deficiency observed in human patients and animal models. Thus we have created a faithful cellular model of arRP incorporating the human genetic background which will allow us to investigate in detail the disease mechanism, explore screening of a variety of therapeutic compounds/reagents and design either combined cell and gene- based therapies or independent approaches.

Looking Forward to a Dynamic Third Age - Comparative Survey Report

BALL (Be Active Through Lifelong Learning) is an Erasmus + project of the European Union with the chief objective of analysing the degree of Preparation for Retirement among European citizens. The team working for this project, funded by the EU, is composed by organizations with broad experience at work with the third age from three European countries, Poland, Iceland and Spain, and the results obtained from these three contexts aim to provide a clear picture about the state of the art in preparation for retirement nowadays. The main objective of the project is to develop innovative guidelines and recommendations for use at lifelong learning centres; universities; companies; unions; associations; local and regional authorities who need and wish to prepare and encourage individuals under their auspices to prepare for the third age. The project defines the age group of 50 to 70 (the “baby boomer” generation) as the target group for such early preparations. The project and its outcomes will be used to raise awareness of these important issues and disseminate the results throughout the European Educational Area and the worldwide U3A network.