Our team, which joined l’institut du thorax in February 2018, includes the members of the department of medical genetics of Nantes University Hospital, one of the largest of its kind in France. Our objective is to further strengthen our existing collaborations in cardiovascular research with the other members of the laboratory, and to facilitate translational research in cardiovascular genetics by transferring any medically relevant genetic discovery to molecular diagnostics.

In each program, patient recruitment is ensured in the context of molecular diagnostics. Since 2010, we have identified a dozen new genes responsible for intellectual disability (ID) through our high-throughput sequencing approaches and international collaborations, notably including the Baylor College of Medicine (Houston, Texas). In parallel, we have recently reported a new molecular mechanism causing erythrocytosis through the involvement of a cryptic exon in the VHL gene.
Gene discovery is a starting point only though: functional investigations are needed to further understand the molecular mechanisms underlying disease. To advance on these issues, our strategy is based on molecular approaches applied to stem cells derived from the patients. In complement, we have developed tight collaboration with the Zebrafish Modeling Center at Duke University, enabling us to model the consequences of gene mutations involved in syndromic ID.
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