Working with families to understand genetic disease
By Sharon Gray
Earning a PhD is no small feat, but for Kathy Hodgkinson the degree is not as important as the clinical work she has done over the last 15 years on a severe genetic disease.
“The degree is all about the impact my research has had on families who carry the gene for the rare but deadly arrhythmogenic right ventricular cardiomyopathy (ARVC), which causes sudden cardiac death,” she explained.
Kathy’s doctoral thesis is on the clinical and genetic epidemiology of ARVC in Newfoundland. Unlike research that takes place in a laboratory, her work involves talking to families, developing family pedigrees and collecting medical information that will help to understand how the disease works.
“This piece of work was far more than just a thesis,” she said. “Genetic research of this type becomes almost a crusade, revealing as it does the inequalities inherent in a health care system struggling to provide care in rural de-populated areas, and defines a desire to help individuals reluctant sometimes to face the burden of inheritance.”
In 1995, Kathy began working as a genetic counsellor in collaboration with researchers at Memorial University. Some families had been referred for “cardiomyopathy,” a catch-all phase that didn’t offer a specific diagnosis.
She began to define the population of people with the disease. Building on this work, laboratory research by Dr. Terry-Lynn Young was eventually able to identify the gene responsible for ARVC in Newfoundland in 2008.
For the families involved, that discovery now means that a blood test can tell who does, or doesn’t, carry the ARVC gene.
“I have loved working with this population, particularly because I have met the most admirable, wonderful people,” said Kathy. “Clinical research of this nature is so very important because the research results may alter the way the disease is treated, diagnosed or managed.”
Kathy has cried with families when the diagnosis is bad, and laughed in relief with them when the news is good. Never one to rest on her laurels, she continues the ARVC research and is also involved in genetic research on hearing loss and Tourette Syndrome. She also collaborates on research into genetic knowledge and moral responsibility.
Before moving to St. John’s, Kathy earned a M.Sc. in genetic counselling at McGill University and a B.Sc. in genetics and cell biology from Manchester University, England.