Dr. Isabelle Bourdeau, a researcher with the CHUM’s Cardiometabolic Research Theme is the recipient of the 2022 Award of Excellence for her “Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome: a multicentre retrospective cohort study,” published in The Lancet Diabetes & Endocrinology.

This CHUM endocrinologist and her research team, in partnership with Dr. Peter Kamenicky’s team at Bicêtre Hospital (Assistance Publique-Hôpitaux de Paris, France), identified in gene KDM1A the mutations responsible for the development of a specific food-dependent form of Cushing’s syndrome, a rare disease that affects the adrenal glands.

This rare form of Cushing’s syndrome is caused by the overproduction of cortisol, a steroid hormone, by the two adrenal glands located above the kidneys. The scientists also show for the first time that the disease is genetically transmitted.

“When the tissues of the human body are exposed to this excess of cortisol, serious effects occur in those with the disease: weight gain, high blood pressure, depression, diabetes, osteoporosis and heart complications, for example,” explained Dr. Bourdeau upon publication of the study in 2021, with Dr. Fanny Chasseloup, the French team’s co-first author.

A Historical Connection

This discovery comes nearly 30 years after the disease was first described in 1992 by the research group of Dr. André Lacroix at the CRCHUM and his colleagues, Dr. Johanne Tremblay and Dr. Pavel Hamet.

The form of this disease studied by the scientists is caused specifically by the abnormal receptor expression of a hormone called GIP (for glucose-dependent insulinotropic peptide), in both adrenal glands of patients. This hormone is produced by the small intestine in response to food intake. In those with the disease, cortisol concentrations increase abnormally every time food is ingested.

During this scientific adventure involving the use of cutting-edge genetic techniques on patients’ tissues, Dr. Bourdeau was fortunate to be able to rely on the support of CRCHUM researcher Martine Tétreault for the project’s computational analyses.

For these reasons, the members of the CRCHUM’s Scientific Board have chosen her as the recipient of the 2022 Award of Excellence in the Scientific Contribution of the Year category.

The official awards ceremony will take place in May 2023 during the CRCHUM researchers’ retreat.

About the CRCHUM Research Awards of Excellence

Presented since 2012, the CRCHUM Research Awards of Excellence are honours that recognize the significant contributions of our researchers in the advancement of health research. Award recipients are selected by the Research Centre’s Scientific Committee from among our 160 regular researchers.