Acronym: PA-DRSP
Study coordinator: Isabelle PERRAULT
The project focuses on the re-analysis of genetic data from the France Genomic Medicine Plan (PFMG) to identify new genes responsible for severe and early-onset retinal disorders (DRSP). It is based on the reuse of PFMG data, which includes whole genome sequencing, and will be carried out within the Genetics in Ophthalmology Laboratory (LGO) and the bioinformatics platform at the Imagine Institute.
Isabelle Perrault, the project coordinator, has been working for over 20 years on the genetic causes of retinal diseases affecting infants and children. Her expertise, combined with the tools provided by the CAD and the support of Patrick Nitschké—who developed genome analysis tools at the Imagine Institute—should make it possible to uncover new genetic causes responsible for these retinal disorders that can lead to blindness.
The objective of this project is to advance the understanding of the genetic determinants of DRSP, whether through the discovery of new genes, mechanisms, or strategies, with direct translational applications to improve patient care.