Duarte, Ana JoanaAmaral, OlgaBragança, José2021-03-132021-03-132020-03-25http://hdl.handle.net/10400.18/7463Trabalho com aplicação transversal a várias áreas de teste de abordagens terapêuticas diferentesRare diseases (together representing 1 in 8000) provide a valuable model to study cellular mechanisms involved in health and disease. However, a major obstacle in the study of pathogenic mechanisms and evaluation of new therapeutic approaches is the accessibility of the target cells. Rare diseases of lysosomal accumulation (Lysosomal storage Disorders, LSDs) are multisystemicand exhibit different degrees of involvement, often presenting target cells that can only be obtained through very invasive procedures. The loss of lysosomal integrity influences the entire cellular environment and leads to impairment of cellular function. The importance of iPSCs as experimental models is vast since they provide an optimal platform for investigation pathological mechanisms.engHuman GeneticsModelos CelularesInduced Pluripotent Stem CellsTherapeutics TestingDoenças Genéticasconference object