The proposal is to establish a collection of 500 blood samples from participants with Familial Hypercholesterolaemia (FH). Samples will be collected before and during treatment. The collection will be linked to health data and data in the National FH registry.
What is the issue for NSW?
Familial Hypercholesterolaemia is a form of inherited high cholesterol and affects 1/250 people but is underdiagnosed and undertreated. It is associated with a high risk of cardiovascular disease, heart attack, or stroke at a young age.
There is typically a genetic component to hypercholesterolaemia, and in people with FH, monogenic variations vastly elevate cholesterol levels and the risk of premature cardiovascular disease.
What does the research aim to do and how?
This research aims to reduce disease and deaths for FH patients and the broader population by identifying inflammatory changes that are markers for personalised treatments.
This collection will be used to establish a new method to detect presence of FH in dried blood samples. Having a biobank of familial hypercholesterolaemia biospecimens will expedite research into improved detection of FH and the search for cellular alterations that could be targeted to improve treatment. Linked health data will enable broader research into treatment and long-term outcomes, benefiting both FH patients and the broader population impacted by high cholesterol.
Because this sample type is currently collected from newborns and used to screen for other diseases. This technique could be used for universal screening for FH to ensure earlier detection and treatment to improve health.