Team
Translational genomics

The team focus on several key questions in the field of rare genetic disorders. First, we aim at exploring the complexity of disease expressivity, beyond the mendelian molecular diagnosis. This will be achieved by two actions: 
• modelling multifactorial hypothesis for the interplay of multiple genetic variants and phenotypes, in selected rare monogenic disorders and complications; 
• predicting impact of disease-causing variants and modifying factors on DNA-protein and protein-protein interactions. 

These questions rely on the existence of several key elements, available to the team:  large datasets of whole genome sequencing data, detailed clinical evaluations of case series in selected rare disorders with high rates of complications, aggregations of scientific and technical skills for manipulating these multimodal data.