Tag Archives: SNPs

What is the future of cardiovascular health? NHS Medical Director Professor Sir Stephen Powis opened the conference by outlining the growing need to provide high quality cardiovascular care. With a quarter of deaths in England attributable to cardiovascular disease and a wider cost to the economy of £15.8 billion per year,1 there is an urgent need for innovative care pathways and new technologies. He showcased virtual wards as one example of innovation, with over 100,000 patients having been managed remotely in 2022.2 In Liverpool, a Telehealth team has successfully utilised a medical monitoring app to manage patients at home, leading to a 1

Familial hypercholesterolaemia or not? The importance of considering polygenic hypercholesterolaemia in those with no monogenic cause for familial hypercholesterolaemia (FH), was outlined by Professor Steve Humphries (UCL Institute of Cardiovascular Science, London).1 By looking for the presence of specific high low-density lipoprotein cholesterol (LDL-C), single nucleotide polymorphisms (SNPs) and combining these to generate a SNP-score, those with the most variants can be identified. Professor Steve Humphries Individuals who are in the top five deciles of the SNP-score are highly likely to have a polygenic explanation for their high LDL-C