Purpose of the STSM: Our research group is focused on the study of the pathophysiology of propionic acidemia (PA) and the development of new RNA-based therapeutic approaches and identification of new biomarkers for disease prognosis. Induced pluripotent stem cells (iPSC) obtained from PA patient´s fibroblasts are relevant research tools. However, there is a need for disease-specific isogenic controls, which ideally would have the same genetic background as the mutant iPSCs. Therefore, the main goal of this STSM has been focused on the generation of isogenic controls of PA iPSCs using CRISPR-Cas9 technology to correct the patient’s mutation(s). Furthermore, we were interested in learning different methods to monitor the efficiency of gene edition such as digital droplet (ddPCR).
Grantee name: Alejandro Fulgencio Covián (Centro De Biología Molecular Severo Ochoa, Madrid, Spain)
STSM start and end date: 2020-01-03 to 2020-02-01
Title: Delivery of Antisense RNA Therapeutics