Many of us are members of the CHEO Research Institute. Our research is designed to further understanding of genetic diseases and improve our ability to help patients and families dealing with these conditions. It is often conducted in collaboration with scientists who are not directly involved in patient care.

We are academically affiliated with the University of Ottawa Faculty of Medicine’s departments of Pediatrics, Medical Oncology and Pathology & Laboratory Medicine. We are committed to excellence in the teaching and mentoring of medical students, residents and fellows. We also teach our peers about medical genetics in the context of continuing medical education days at local venues and participate in seminars at provincial, national and international conferences as well as presentations to outreach communities.

We conduct research in virtually all areas of clinical and laboratory genetics and are the home of the most successful rare gene discovery programs in Canada, FORGE Canada and Care for Rare, which have achieved international recognition.

  • Areas of research include, but are not limited to:
  • Finding of rare disease genes
  • Describing new genetic conditions
  • Finding new clinical or laboratory characteristics of existing genetic conditions
  • Finding new ways to test for genetic conditions
  • Learning about the impact of genetic conditions on patients and families
  • Finding the best way to provide genetic counselling to patients and families

Our research interests are numerous and diverse. More information about our MD and PhD researchers can be found at the website of the CHEO Research Institute.


Royal College of Physicians and Surgeons of Canada


Professional Association of Residents of Ontario (PARO)

Canadian College of Medical Geneticists

CHEO Regional Genetics Program

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