Pi Campus recently closed an investment in Allelica, an Italian startup founded by researchers who left the University of Oxford and Sapienza University of Rome to bring the Polygenic Risk Score, not yet taught in universities, directly to the market. The investment is part of a $ 1.75 million round led by Valor Ventures and Sternberg Health: the money raised will be used to spread the technology in the United States and commercialize a suite of cardiovascular disease prevention tools in Italy. Allelica – founded in 2018 by George Busby, Giordano Bottà e Paolo Di Domenico – recently published a paper in the world‘s first journal of cardiology showing that the effect of “bad” cholesterol on the risk of developing myocardial infarction also depends on genes. “There is still an incredible amount of value that needs to be extracted from the DNA and Allelica is creating the technologies to do so,” says Pi Campus CEO. Marco Trombetti.
The effect of LDL cholesterol. Thanks to the PRS analysis software developed by Allelica, the data showed that the combination of information on the patient’s genetic risk with his or her LDL cholesterol level allows the identification of people at increased cardiovascular risk who would otherwise be invisible to traditional risk models. These high-risk people potentially need adequate drug treatment. Cardiovascular disease is the leading cause of death in Europe, accounting for nearly 4 million deaths (43% of all deaths) in 2016. Also in Italy they still represent the main cause of death (Istat 2018 data), being responsible for 34.8% of all deaths (31.7% in males and 37.7% in females). Significant data: 40% of adults have at least 3 of the modifiable cardiovascular risk factors, such as hypertension, hypercholesterolemia, sedentary lifestyle, smoking, excess weight, low consumption of fruit and vegetables (Heart Project data)
The study published in Circulation shows, in particular, that people with average levels of LDL cholesterol (130-160 mg / dl) but with a high polygenic score have an equivalent risk of suffering from cardiovascular disease and heart attack compared to people with hypercholesterolemia (> 190 mg / dl ) but with an average PRS. Research has also shown that people with high polygenic scores with respect to coronary heart disease can reduce the risk of the disease by bringing it into the population average if they maintain optimal LDL levels (<100 mg / dL). On the other hand, individuals with a low polygenic score do not present an increased risk with increasing LDL levels.
“In clinical practice there was an information gap: for example, atherosclerotic plaque formations can be observed in patients despite low LDL cholesterol levels and the absence of risk factors known to be associated with this condition; to date, a study had not yet been carried out. systematic on how the genetic predisposition linked to the LDL cholesterol level influences the risk of myocardial infarction “underlines Giordano Bottà, PhD, CEO of Allelica. “Our coronary heart disease PRS analysis tool, based on a new scoring with better predictive power than all previously published, allowed us to understand how LDL cholesterol does not affect cardiovascular risk for all people. in the same way “.
“The risk of an individual of having a heart attack or stroke is determined by the interaction of many elements, being multifactorial and polygenic. Today the results of this new cardiovascular polygenic risk score (PRS) open interesting clinical perspectives for our patients. , demonstrating that an individual’s cardiovascular risk depends on a correlation between LDL cholesterol and genetic risk “explains Professor Ciro Indolfi, president of SIC (Italian Society of Cardiology). “The study, published in Circulation, carried out on more than 400,000 individuals, has shown that the risk of heart attack and stroke conferred by “bad” cholesterol (LDL-C) is modified by an individual’s genetic background. This study suggests that the greatest benefits of LDL-C lowering drugs would be obtained in individuals with high polygenic risk scores (PRS). “The study” concludes Indolfi, “showed that in patients with high PRS the increase in cardiovascular risk, with the same LDL cholesterol, was twice that of the intermediate PRS group”. The PRS is also able to accurately identify those individuals who, despite being indicated as needing a therapeutic intervention, according to current guidelines, are not actually at high cardiovascular risk based on their genes and LDL levels, and therefore could potentially avoid treatment.