As a clinician-scientist, I pursue both clinicaland laboratory investigations to achieve these aims. My current research istypically prompted by novel clinical observations, the basis of which is theninvestigated in the laboratory.

I mainly use genetic investigations to identify the molecular basis and I have contributed to the description of so far two previously unrecognised disorders and their genetic basis. In addition, I have contributed to the identification of numerous new disease genes.

I have also detailed the clinical phenotype of several inherited diseases in order to better understand the clnical consequences of the molecular defect and to gather data on treatment and prognosis.
I am involved in the development of a zebrafish model for EAST syndrome to develop new treatments.