On February 3, 2023, the CRCHUM Interdisciplinary Conference will host Dr. Isabelle Bourdeau, a researcher in the Cardiometabolic Research Theme and the head of the CRCHUM Adrenal Pathophysiology Laboratory. She is the medical director of the Interdisciplinary Adrenal Tumour Team at the CHUM and a full clinical professor in the Université de Montréal’s Department of Medicine. Dr. Bourdeau will present her translational research program on the genetics of adrenal tumours. 

Adrenal cortex tumours can lead to excess production of cortisol (Cushing’s syndrome), causing weight gain, high blood pressure, diabetes and osteoporosis, among other things. She will discuss her team’s recent identification of pathogenic germline variants in the KDM1A gene, which is responsible for an unusual form of Cushing’s syndrome, namely, GIP-dependent macronodular adrenal hyperplasia. This discovery will allow patients with the disease and their family members to undergo genetic testing and will ultimately lead to early detection of the disease, thus improving survival rates for these patients.   

She will also discuss the genetics of pheochromocytoma. Pheochromocytoma originate in the adrenal medulla and lead to excessive adrenaline secretion, which can cause severe high blood pressure. Pheochromocytoma are the most hereditary tumours in adults. Dr. Bourdeau will explain the clinical utility of multi-gene panels in a cohort of CHUM patients with pheochromocytoma and paraganglioma, thereby opening up new avenues for precision medicine.  

CRCHUM Amphitheatre       

       900, Saint-Denis Street, 5th floor         

       R05.212A eand R05.212B

Or

Sign up for the ZOOM

Isabelle Bourdeau received her specialist certificate in endocrinology at the Université de Montréal in 2000. She pursued postdoctoral training in endocrine genetics at the National Institutes of Health. She is a full clinical professor in the Université de Montréal’s Department of Medicine and has been a regular researcher at the CRCHUM since 2004. Dr. Bourdeau has been the director of the multidisciplinary quaternary adrenal tumour team at the CHUM since 2006. She has headed the CRCHUM’s Adrenal Tumour Biorepository since 2009. She is also the CHUM’s senior investigator representing Canada on the American-Australian-Asian Adrenal Alliance (“A5”) adrenal network.

Dr. Bourdeau studies the genetic mechanisms that lead to the development of adrenal tumours. She and her team work to identify the genes responsible for diseases of the adrenal glands. She recently identified pathogenic variants in a gene which are responsible for an unusual form of Cushing’s syndrome. Dr. Boudreau has written over 100 papers published in peer-reviewed journals.