The last day of February is recognized as Rare Disease Day. We at SickKids, are proud to join the many who are working towards providing faster diagnoses, advanced therapies, and ultimately cures for those families affected by rare disease.

On behalf of Can-GARD, the Division of Clinical and Metabolic Genetics, and the Genetics & Genome Biology program here at SickKids, we invite you to join us on February 28, 2025, for Rare Disease Day at Peter Gilgan Centre for Research and Learning – SickKids Research Institute, 686 Bay Street, Toronto, ON, M5G 0A4.

This year’s theme will be
“Enhancing connections between the research lab, the clinic and the home“

We are delighted to announce this year’s keynote speaker will be:

      Dr. Philippe Campeau
Medical Geneticist, CHU Sainte-Justine Research Center
Assistant Clinical Professor, Department of Pediatrics, Université de Montréal

“Philippe Campeau’s research interests have for a long time focused on improving the treatment of inborn errors of metabolism through, among other things, cell and gene therapy. He has worked toward a better understanding of the role of nitric oxide in urea cycle disorders and his present research concerns signaling pathways activated by phenylbutyrate, a drug used to prevent hyperammonemia.

His most recent research interests deal with skeletal dysplasia. Through exome sequencing (all of the genes in the genome), he and his colleagues have identified the genetic cause of genitopatellar syndrome (KAT6B), a form of osteopetrosis, dysosteosclerosis (SLC29A3), a form of osteogenesis imperfecta and early onset osteoporosis (WNT1), Yunis-Varon syndrome (FIG4) and DOORS (or DOOR syndrome), which associates deafness with epilepsy and skeletal abnormalities (TBC1D24). Their current work with murine models is aimed at a better understanding of the function of these genes”

**Abstract submission deadline: February 9, 2025 @ 5pm EST**