The focus of my research has been on deciphering the complex genetic architecture of human disease traits and modeling complex trait interactions in animal models . As part of the MODEL-AD consortium, my role is to support the efforts in building precise mouse models for late-onset Alzheimer disease by prioritizing human genetic risk variants for the creation of novel mouse models.
2012Recipient of the CHU Sainte-Justine Postdoctoral scholarship of excellence, Montreal. Canada
2016Finalist Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research for the 66th Annual Meeting of the American Society of Human Genetics, Vancouver. Canada
The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-β signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.