What is the issue for NSW?
Spontaneous coronary artery dissection (SCAD) is a poorly studied cause of heart attacks. However, it is the most common type of heart attack in certain sections of the population, particularly younger women and pregnant women, a highly vulnerable group. Currently, treatment, prevention of repeat Spontaneous coronary artery dissection attacks, and patient and family counselling are all hampered by a lack of basic understanding of the underlying disease mechanisms. While efforts to accurately diagnose and recruit further survivors into research continues, pre-existing genetic data can be used in the present to identify novel genetic risk factors and thereby improve patient risk understanding and guide future research directions.
What does the research aim to do and how?
The aim of this research is to identify new common genetic variants associated with disease risk and apply this knowledge to patients and their families to better manage risk and facilitate appropriate care and prevention. This will be achieved by leveraging existing genetic association studies for both SCAD and related diseases, bypassing the slow process of collecting more samples and the subsequent need to fund expensive sequencing efforts. After further confirmation in an independent, already available set of SCAD cases, the resulting genetic variants can be interrogated in a cohort of families, providing insight into disease risk and prediction.