Dr. Kathy Hodgkinson, a member of the award winning sudden cardiac death genetic research team, holds a Bachelor of Science degree in Genetics and Cell Biology from Manchester University, England and a Master of Science in Genetic Counselling from McGill University, Montreal. She obtained her PhD at the school of Medicine here at Memorial, and has remained in St. John’s ever since. Her PhD work on the clinical and genetic epidemiology of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) pioneered and laid the groundwork for the solving of a centuries old ‘curse of sudden death’ in Newfoundland.
Speaking on the academic path that led her down to being part of solving this conundrum, Dr. Hodgkinson said she studied genetics because “genetics is history written in a biological molecule, using the four letters of the genetics alphabets”. Genetics combined her love for history and biology, which in effect forms an important background to her work with ARVC. Subsequently, Dr. Hodgkinson has worked in the discipline of Genetics for over two decades, through several stages and in different capacities. Speaking on the focus on ARVC out of the cohort of cardiac diseases in Newfoundland, “ARVC was one of the most obvious and devastating, hence the focus and impetus to try and unravel the mystery” said Dr. Hodgkinson.
The research group she worked with (a multidisciplinary team) discovered a genetic mutation which has been conserved across evolutionary time, found the gene prevalent in NL patients (one previously unlinked to a human disease called TMEM43). As part of their work, the research also led to designing tests to screen for the genetic mutations and subsequently came up with a treatment plan – the implanting of an ICD (implantable cardiac defibrillator). “The ICD which is placed in the chest like a pacemaker notes when the heart rhythm goes into an abnormal rhythm and gives the heart a shock internally to bring the heart rhythm back to normal”, said Dr. Hodgkinson.
This discovery has had a massive effect on the life of patients, as data has shown that the treatment has increased the life expectancy of male patients by about three decades, Dr. Hogkinson added. However, Dr. Hodgkinson (and the team of scientists pictured below) continues to do research on other genetic causes of cardiac disease in Newfoudland.
Photo Credits: Mun faculty of Medicine website
Dr. Hodgkinson (2nd from the left) works as part of a team including Drs. Terry-Lynn Young, Sean Connors and Daryl Pullman who received a 2018 ‘Governor General’s Innovation Award’, for their pioneering discovery of the underlying aspects of this fatal genetic condition.
On what drives her research (which seems to be a lifelong work), it’s the need to contribute to a field that requires work, she said.
Newfoundland is a powerful place for genetics research, as unique in that the natural history of a disease (from birth to dirty) can be monitored, using available data, she added.
Photo Credits for Feature Image: MUN Gazette Website
Reporter: Modeline Nicholas Longjohn
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