Venessa Thorsen
Project: Spotting the risk: Testing a finger-/heel-prick method to detect a common, life-threatening high-cholesterol disease in infancy
“One thing that surprised me this summer was how much coordination happens behind the scenes before a single participant is enrolled. While patient recruitment is an exciting milestone, I gained a much deeper appreciation for everything that comes first, from validating laboratory methods and developing study procedures to coordinating with clinicians, laboratory scientists and research staff. It reinforced that meaningful clinical research is truly a team effort, and that careful preparation is essential to producing results that may ultimately change practice.”
Summary: Familial hypercholesterolemia (FH) is a common inherited condition that affects about 1 in 250 Canadians. Children with FH have lifelong severe elevations of “bad” cholesterol. If they are not diagnosed and treated early, they have an 18-times-greater risk of heart attacks and strokes, which can occur as early as their 30s. While safe and effective treatments exist, they work best when started in childhood. Unfortunately, more than 90 per cent of people with FH do not know they have it. In Alberta, only about four per cent of children are tested. There are multiple barriers to testing. For example, the usual blood test requires a needle in a vein, which can be stressful for young children and their families.
This project studies an easier way to test for FH using a quick finger or heel prick and just a few drops of blood placed on a card. It is similar to the heel-prick test babies receive at birth. If this method works well, FH screening could be added to routine vaccination visits, making testing easier for families and improving access in rural and remote communities.
Working with experts in genetics and laboratory medicine, this study will compare dried blood spot testing with standard blood tests to ensure accuracy and reliability. The project will also include input from genetic counsellors to help develop clear, supportive ways to share results with parents.
Finding FH early helps ensure that children are diagnosed and treated before serious heart damage occurs. When a child is diagnosed, their parents and siblings can also be tested, which often identifies adults who did not know they were at risk. This project aims to prevent heart disease before it starts and improve long-term health for children and families across Alberta and beyond.
Venessa Thorsen was supervised by Dr. Michael Khoury in the Department of Pediatrics in the Faculty of Medicine & Dentistry. Her WCHRI summer studentship was funded by the Stollery Children’s Hospital Foundation. She is enrolled in the University of Alberta’s doctor of medicine program.
Read more about WCHRI’s training awards for students at all levels and generous grants for researchers. See the rest of the 2026 summer studentship recipients here.
