Research-2

Using iPSCs as a tool to model and treat disorders

We have been interested in the reprogramming of somatic cells into pluripotent stem cells and the differentiation of these induced pluripotent stem cells (iPSCs) into different cell types. Human iPSCs are a great tool to study diseases caused by the patient-specific genetic landscape, as they enable direct linkage of the patient’s phenotype to a phenotype in a dish. Our research focuses on the use of iPSCs to treat and model, monogenic as well as complex genetic disorders. For this we exploit our expertise in the differentiation and the genetic modification of human iPSCs. Current projects focus on the use of human iPSCs to generate human thymus epithelium for the treatment of DiGeorge syndrome patients (Chhatta et al, 2019), and the modeling of RAG2-severe combined immunodeficiency (SCID). As we believe that the true power of iPSCs lies in the genetic background that is identical to that of the patients from which they have been derived, we have also embarked on the modeling of complex genetic disorders such as microdeletion and microduplication syndromes with a broader, but incompletely penetrating phenotypes. We take advantage of these iPSCs with multiple number variants (CNVs) to identify the genes responsible for specific phenotypes using amongst others iPSC-derived cerebral organoids.

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