Scientists from the Faculty of Medicine, Masaryk University, joined 14 other European institutions in the European project FH-EARLY aimed at early diagnosis of familial hypercholesterolemia. This inherited disorder, which causes high blood cholesterol levels, multiplies the risk of heart attack at a young age. However, most patients (up to 90% globally, 75% in the Czech Republic) are unaware of their diagnosis.
Familial hypercholesterolemia is one of the most common inherited metabolic disorders in general. It affects one person in two to three hundred, which means that there are around forty thousand people in the Czech Republic who have a multiply higher risk of heart attack as a result of it, often after the age of thirty. Although the excessive amount of harmful cholesterol (LDL cholesterol) in the blood can be easily and effectively controlled, the problem is that most patients (up to 90% globally, 75% in the Czech Republic) do not know about their diagnosis. The new FH-EARLY project, in which the Masaryk University Faculty of Medicine is involved with 14 other European institutions, aims to help change this.
"A person can live for years without symptoms before unexpectedly suffering a heart attack. And the older one gets, the harder it is to diagnose familial hypercholesterolemia, as cholesterol levels naturally increase with age, so it can be harder to distinguish whether it is due to a genetic disorder or other factors such as an unhealthy lifestyle. Only genetic testing will provide an accurate diagnosis," says Professor Tomáš Freiberger from the Centre for Cardiovascular and Transplant Surgery in Brno. Four years ago, as an expert guarantor, he supervised a pilot project to detect familial hypercholesterolemia in newborns at the national level. "Cholesterol testing has the highest specificity for detecting the disease in children between one and nine years of age, but we have shown that cord blood testing is already effective in newborns," he adds.
The new Horizon Europe-funded multinational project aims to focus on the timeliness of diagnosis as a key aspect for the subsequent course of treatment and improving patients' quality of life. Its outputs will be a comprehensive functional characterisation of the relevant gene variants to facilitate understanding disease onset. Still, using state-of-the-art technologies, including artificial intelligence, researchers will develop a toolkit for early diagnosis and predicting how it will progress in a particular patient.
"Our department enters the project with an extensive database of genetically and clinically well-characterized patients and more than 20 years of experience with genetic diagnosis of this disease. We will coordinate the part of the project that will focus on the search for new genes and new genetic mechanisms of familial hypercholesterolemia, as well as on the development of a genetic risk score to determine the individual risk level of each patient," adds Professor Freiberger, who is also involved in the prevention and treatment of cardiovascular disease within the National CarDia Institute.
The FH-EARLY project will help prevent premature cardiovascular disease not only in patients with familial hypercholesterolemia but also in the general population, and its impact goes far beyond healthcare. The cost of cardiovascular disease is estimated at EUR 282 billion annually across the European Union. Thus, through early diagnosis and more targeted therapy, FH-EARLY can potentially provide patients with a healthier life free of cardiac events and significantly reduce this economic burden.
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