Amaral, Olga2021-04-212021-04-212020-02-21http://hdl.handle.net/10400.18/7691Novel tools in cell and molecular biology: induced pluripotent stem cells in the field of lysosomal storage disorders - Invited lectureThe lysosome is the center of a group of rare inherited diseases commonly referred to as Lysosomal Storage Disorders (LSDs). LSDs have been long studied; presently, the main objective is to characterize their pathophysiology contributing to their understanding and treatment. Our main commitment is to help providing the insight required for the development of more specif ic therapies. Existing therapies for LSDs constitute a large financial burden, having a significant impact on health systems and family resources. Therefore, in order to progress with new therapies, one needs to first develop effective and economically via ble models for testing specific therapeutic approaches. With the advent of induced pluripotent stem cells (iPSCs) it became possible to establish cellular models for several diseases. In our lab we recently started generating iPSCs from a few lysosomal dis orders. This new tool allows easier access to disease specific cells, with the advantage of preserving the original genotype of the donor cells. The development of precise cellular models, in a non - fully dedicated lab, is a long process. The procedure requ ires several checkpoints involving specific techniques. The process will be briefly described and the applications of iPSCs will be discussed. With specific disease models, we hope to contribute to the increase of choices in terms of availability of materi al for developing new therapeutic interventions.engiPSCsStem CellsCell ModelsDoenças GenéticasGenética Humanaconference object