Speakers: 

Dr. Kellie Davis
Dr. Vicky Siu
Dr. Ramona Salvarinova
Dr. Patrick Frosk
Dr. Simon-Pierre Guay

Genetic and Metabolic Insights from Canadian Diversity
Speaker: Dr. Kellie Davis

My talk will focus on the history of the Acadian population in the Maritimes, what founder mutations appeared in the founder population that are now showing up in present-day Acadians, what type of screening we offer Acadians and how these conditions are managed.

At the end of the session, participants will be able to:

  • Recognize genetic conditions that are more common in those of Acadian ancestry

Target Audience: Clinical Geneticists
CanMEDS Roles: Medical Expert (the integrating role), Health Advocate, Scholar

Dr. Davis is a Medical Geneticist at the IWK Health Centre in Nova Scotia. She completed her medical training in Ottawa and Calgary and previously practiced in Saskatoon. Her work focuses on quality improvement and skeletal dysplasias, including leading a cancer mainstreaming initiative and developing a multidisciplinary skeletal dysplasia clinic. She also aims to develop the IWK’s capacity to become an investigative site for clinical trials related to bone disorders and other emerging therapeutics.

Genetic/Metabolic Disorders in the Old Order Mennonite and Amish Populations in Ontario
Speaker: Dr. Vicky Siu

This presentation will focus on the unique genetic disorders in the Old Order Mennonite and Amish populations which are prevalent in Southwestern Ontario, highlighting cardinal signs for diagnosis. The use of targeted variant testing for carrier screening and rapid newborn diagnosis will be emphasized. Online access to a population-specific genetic disorders database will be demonstrated.

At the end of the session, participants will be able to:

  • Identify some of the unique genetic/metabolic disorders in the Old Order Mennonite and Amish populations in Ontario
  • Demonstrate the utility of an Old Order Mennonite and Amish targeted variant panel for carrier testing and diagnosis
  • Access the Amish, Mennonite, and Hutterite genetic disorders database to enable cost effective and timely diagnosis which can inform appropriate management

Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees, Molecular Pathologists, Medical Lab Technologists
CanMEDS Roles: Medical Expert (the integrating role), Collaborator, Health Advocate, Professional

Dr. Victoria Mok Siu is a medical geneticist who has been working with the Anabaptist population in Southwestern Ontario for 40 years. Through FORGE Canada, Care4Rare, and collaboration with Dr. Robert Hegele and Dr. Tony Rupar, she has identified the genetic basis of several unique disorders in these communities which are otherwise extremely rare in the general population. She has established newborn diagnosis and carrier screening for over 30 rare genetic disorders and works closely with local midwives to enable rapid diagnosis and management. She has advocated for decreased hospital inpatient costs for uninsured Ontario Anabaptist citizens, which has been endorsed by all hospitals in Southwestern Ontario, thus improving access to healthcare. She is constantly inspired by and has learned much from the strength and resilience of these families.

Inherited Metabolic Diseases in the Pediatric Population of British Columbia
Speaker: Dr. Ramona Salvarinova

The presentation will focus on the variety of inherited metabolic diseases diagnosed in the pediatric population in BC and provide insight on innovative treatments for patients with rare inherited metabolic diseases.

At the end of the session, participants will be able to:

  • Asses the diversity of inherited metabolic diseases diagnoses in BC

Target Audience: Genetic Counsellors , Trainees, Clinical Biochemical geneticists
CanMEDS Roles: Medical Expert (the integrating role), Collaborator, Health Advocate, Scholar

Prairie Roots: Genetics Of Western Canada’s Founder Populations
Speaker: Dr. Patrick Frosk

An overview of the unique genetic landscape of the Prairie Provinces driven by individual population level founder effect. Monogenic conditions that are unique or have an opportunity for early intervention and reduction of morbidity / mortality will be highlighted.

At the end of the session, participants will be able to:

  • Identify the main populations affected by founder effect in the Canadian Prairies
  • Describe 3 unique conditions endemic to the Prairies due to founder effect

Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees
CanMEDS Roles: Medical Expert (the integrating role), Collaborator, Health Advocate, Scholar

Dr. Frosk is a medical geneticist at the University of Manitoba in Winnipeg. He is provincial specialty lead for medical genetics in Manitoba and a clinician scientist with the Children Hospital Research Institute of Manitoba. His clinical practice is primarily in neurogenetics and biochemical genetics.

Genetic and Metabolic Insights from Canadian Diversity
Speaker: Dr. Simon-Pierre Guay

At the end of the session, participants will be able to:

  • Review the concept of the founder effect and its impact on the French-Canadian population of Quebec, including the most common associated monogenic disorders.
  • Discuss carrier screening programs for autosomal recessive hereditary diseases in populations from the Saguenay–Lac-Saint-Jean, Charlevoix, and Haute-Côte-Nord regions.

Target Audience: Clinical and Biochemical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees
CanMEDS Roles: Medical Expert (the integrating role), Health Advocate, Professional, Scholar

Dr. Simon-Pierre Guay is a medical geneticist in the genetics service of the pediatrics department at the CIUSSS de l’Estrie – CHUS. Dr. Guay completed a doctorate at the University of Sherbrooke in 2014 on the epigenetic determinants of cardiovascular disease in patients with familial hypercholesterolemia. He subsequently pursued medical studies in the medical training program in Saguenay (PFMS) at the University of Sherbrooke from 2014 to 2018. He completed his residency in medical genetics and genomics at McGill University in 2023 and a postdoctoral fellowship at the Lipids, Nutrition, and Cardiovascular Prevention Clinic of the Montreal Clinical Research Institute (IRCM) in 2024. Dr. Guay specializes in the diagnosis and management of monogenic dyslipidemias.

Event Timeslots (1)

Day 4
-
Speakers: Dr. Kellie Davis, Dr. Vicky Siu, Dr. Ramona Salvarinova, Dr. Patrick Frosk, and Dr. Simon-Pierre Guay