Academy of Finland
Funding decision
 
Name Ranki, Annamari
Organisation University of Helsinki
Project title DEVELOPMENT OF GENE AND CELL THERAPY FOR APECED
Decision No. 309433
Decision date 28.04.2017
Funding,period 01.09.2017 - 31.08.2021
Funding 448 849
WebFOCUS Report
Project description
The overall goal of this preclinical project is to develop a curative treatment for the severe multiorgan genetic disease APECED(autoimmune-polyendocrinopathy-candidiasis- ectodermal dystrophy), caused by a mutation in the AIRE gene. AIRE is the master regulator of immune tolerance, operating both in the thymus and in peripheral lymphoid organs. In this project, we will generate autologous induced pluripotent stem cells (iPSC) from patients, correct the mutated gene by CRISPR/Cas9 technology and redifferentiate the gene-corrected cells to cell types that normally express AIRE: medullary thymic epithelial cells and extrathymic haematopoietic stem cells. The grafting potential of the gene-corrected cells is tested in appropriate mouse models and safety will be studied in in vitro tests and in an aire knock-out murine model. In the ultimate clinical phase of the study (outside the current grant), these autologous, gene-corrected cells will be transplanted into the patient.