Grant: Travel Awards - Institute Community Support

Heart attacks and strokes are leading causes of death of Canadians, and abnormalities of blood cholesterol are one of the most important risk factors for these diseases. In many patients, abnormal cholesterol levels are due to a genetic cause. Advances in DNA sequencing technology have created the opportunity to use genetic testing routinely in medical practice. We generated a test to rapidly and accurately sequence 25 genes that cause abnormal levels of plasma cholesterol. We used this test in 90 patients with either very low or very high levels of HDL ("good") cholesterol. Our results show that this sequencing test can identify specific genetic abnormalities in 40% of patients with low HDL cholesterol. Identifying genetic causes of abnormal cholesterol levels could allow more precise diagnosis, enable screening of family members and may lead to new opportunities for targeted treatment strategies.