This session is accredited.

“Bench to bedside to bench to……” SCD in Newfoundland and Labrador – Speaker: Dr. Kathleen Hodgkinson

Using heritable causes of SCD this presentation will reflect upon three decades of work in NL. The power of the population, the importance of deep phenotyping, and the continuing relevance of family studies in the era of NGS will be discussed.

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

  • Gain an appreciation of completed work on heritable SCD in NL, and what the future holds.

Target Audience: Geneticists, Trainees, Any one working in genetics

CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Health Advocate, Scholar

Kathy Hodgkinson is a Professor in the Division of Population Health and Applied Health Sciences at Memorial University, Newfoundland and Labrador (NL) and a clinician scientist with NL health. She is a co-lead of the Sudden Cardiac Death / Cardiomyopathy team (SCD/CM) which has been successful in terms of gene discovery, assessment of natural history and the determination of the magnitude of successful intervention for disease causing SCD and CM. The positive change in clinical management of a form of Arrhythmogenic cardiomyopathy caused by TMEM43 p.S358L (discovered by the team) led to the Governor general’s innovation award in 2018 alongside her colleagues Drs Connors, Pullman and Young. Her interests focus on (a) the power of family studies to reveal genetic causes (with varying penetrance and modes of inheritance) of disease, (b) to determine the scope of phenotype across the lifespan related to genetic etiology and (c) ethical issues associated with this work.

Atlantic Canadian Symposium – Speaker: Dr. Jane Green

Newfoundland was settled by English and Irish fishermen, in individual outports around the coastline. Family size was large and descendants remained in the same outports resulting in clusters of hereditary disease. Families with HNPCC were studied by visiting affected individuals in their home outports, talking to them and to older family members about past affected individuals, obtaining consent to review records to determine age at onset and types of cancer. We then developed a clinical screening protocol to identify tumours early, and identified MSH2 as the first HNPCC gene.

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

  • identify the features of the Nf describe the population features which facilitate development of a screening protocol for a hereditary cancer.
  • assess the results of clinical screening, and reasons for any revisions.
  • discuss the value of finding the relevant gene / mutation, and its use in revising those screening.

Target Audience: Geneticists, Trainees

CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Health Advocate, Scholar

Dr. Jane Green – I grew up in Vancouver, studied Drosophila Genetics with Dr. Suzuki at UBC, then came to Nfld with my husband a Marine Biologist. In 1976 Dr. Johnson, an Ophthalmologist, and I developed an Ocular Genetics clinic, in St John’s and with rural clinics. After a family with VHL was referred, I became increasingly involved with hereditary cancer families. My PhD thesis involved Development, Implementation and Management of Screening Protocols for VHL, MEN1, MEN2, FAP, and HNPCC. I am currently a Professor Emeritus, with OC, and ONL.

Event Timeslots (1)

Day 4
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Speakers: Dr. Kathleen Hodgkinson and Dr. Jane Green - accredited