Identification of genetic defects and development of innovative gene therapies.

We study large patient cohorts to identify gene defects underlying different forms of inherited retinal diseases and develop gene-based innovative therapies

We focus our studies on two areas: deciphering underlying genetic defects of IRDs and developing gene-based innovative therapies. To enhance the identification of genetic defects, we use new technologies such as next generation sequencing (NGS). Our group has established a comprehensive panel of targeted NGS to analyze coding sequences of genes involved in IRDs, identify causative gene defects, and perform whole exome or whole genome sequencing on cases with no mutation on known genes. Our research involves a large cohort of clinically phenotyped patients with various IRDs to further delineate phenotype/ genotype correlations. We use in vitro and in vivo approaches to characterize the function of novel genes and better understand the genetic mechanisms involved in the development of IRDs, including disease modeling using iPSCs. Our project also aims at developing gene-based innovative therapies for CSNB.

Research areas

• Gene defect identification in inherited retinal diseases applying Sanger, targeted and whole exome Next Generation Sequencing;
• Functional studies for a better understanding of retinal pathophysiology;
• Disease modelling using IPSCs
• Gene replacement therapy targeting bipolar cells for CSNB;