Modelos celulares para o estudo de mecanismos de disfunção e correção lisossomal
|Title||Modelos celulares para o estudo de mecanismos de disfunção e correção lisossomal|
|Sponsor||Fundação para a Ciencia e Tecnologia (FCT), Portugal (MCTES)|
|Institution||Instituto Nacional de Saude Ricardo Jorge|
Associated cell lines
The 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 specific therapies. With the advent of induced pluripotent stem cells (iPSCs) it became possible to establish cellular models for several diseases. This new tool allows easier access to disease specific cells, with the advantage of preserving the original genotype of the donor cells. With specific disease models, we hope to contribute to the increase of choices in terms of availability of material for developing new therapeutic interventions. Skin biopsies are not difficult to obtain and provide an easy to obtain material for generating iPSCs. The development of iPSCs and its application to the LSD field is contributing significantly to new strategies for pathogenesis modeling and drug testing.