Study coordinator: Pr Valérie CORMIER-DAIRE
Constitutional bone disorders (CBD) represent a heterogeneous group of conditions encompassing over 700 syndromes, all characterized by skeletal abnormalities leading to impaired bone and cartilage growth and structure.
Next-generation sequencing (NGS) has become an essential strategy for the diagnosis and nosological classification of these rare diseases. This technology enables the sequencing of gene panels as well as the entire human genome. In some cases, whole genome sequencing does not provide a conclusive diagnosis, and reanalysis of genomic data some time after the initial analysis is necessary to identify new genes or confirm candidate genes associated with rare bone disorders.
As a result, our project aims to use data from the CAD to address this objective. In addition, CAD data will help identify modifier genes responsible for the extreme phenotypic variability observed in certain syndromes. The outlook of this project is to enhance the understanding of the genetic determinants of CBDs in order to improve patient management and provide better genetic counseling.