Research project - Re-analysis of Genomes for Developmental Anomalies, Rare-Cause Intellectual Disabilities, Mitochondrial and Neurogenetic Diseases

Rare diseases (RD) affect more than 3 million people in France. The FHU TRANSLAD and GenOMedS are internationally recognized experts in developmental disorders, intellectual disabilities (ID), neurogenetic diseases, and mitochondrial diseases. The implementation of genome sequencing has improved the diagnosis of these diseases. However, half of the patients remain without a diagnosis.

The objective of the RAGADDIMN project is to identify new causes of these rare diseases through the reanalysis of genome sequencing data. The France Genomic Medicine Plan (PFMG) is built on a care-research continuum, allowing research access to genome data derived from diagnostic analyses of patients with rare diseases. This organization is a significant advantage for patients and for medical-scientific research projects aiming to identify new causes of rare diseases and to overcome diagnostic dead-ends.

Thanks to their clinical and biological expertise in these types of diseases and their advanced skills in bioinformatics, the teams from the two FHUs have strong potential to discover new genetic variants responsible for these diseases, thereby improving scientific knowledge.

Thus, the RAGADDIMN project aims to reanalyze genome sequencing data in a research context, for patients from the clinical centers of the two FHUs whose diagnostic results were inconclusive, to identify new variants of interest in these diseases. Indeed, certain complex DNA alterations can be difficult to detect during diagnostic analysis and require the development and/or use of dedicated tools within a translational research framework.

This project fits perfectly within the research opportunities offered by the PFMG and CAD to address the major research axis of PNMR3 dedicated to overcoming diagnostic dead-ends.