Cardiogenetics: A Step Towards Personalized Medicine in the 21st Century
10.04.2025 года Попцова Мария, заведующий Международной лаборатории биоинформатики факультета компьютерных наук НИУ ВШЭ, выступила на совещании ФКН с докладом «Кардиогенетика: шаг на пути к персонализированной медицине XXI века».On April 10, 2025, Maria Poptsova, Head of the International Laboratory of Bioinformatics at the Faculty of Computer Science at the National Research University Higher School of Economics, spoke at a meeting of the Faculty of Computer Science with a report entitled “Cardiogenetics: A Step Towards Personalized Medicine in the 21st Century”
Head of the International Laboratory of Bioinformatics of the Faculty of Computer Science of the National Research University Higher School of Economics Maria Poptsova took part and gave a report "Cardiogenetics: a step towards personalized medicine of the 21st century" at a meeting of the Faculty of Computer Science. In her report, Maria spoke about genetic research in the field of cardiogenetics, focused on creating a catalog of mutations of patients with cardiovascular diseases, which has been conducted since 2019. In 2020, the Consortium "Genetics of Cardiovascular Diseases" was created.
The International Laboratory of Bioinformatics is the developer of the genetic test CARDIOLIFE, which includes the technology of genetic testing and processing of the obtained data using artificial intelligence for diagnostic tasks and assessment of the risk of developing cardiovascular diseases. Genome analysis is performed using NGS methods. Unlike PCR and target panels, in addition to known variants, all lines of tests being developed should allow detection of both previously unknown inherited variants and somatic mutations for each individual patient.
The CARDIOLIFE genetic test is a unique development due to the creation of a socially significant and practical modern diagnostics and risk assessment of cardiovascular diseases with a wide range of nosologies from the point of view of cardiology:
• long QT syndrome,
• short QT syndrome,
• Brugada syndrome,
• catecholaminergic polymorphic ventricular tachycardia,
• hypertrophic cardiomyopathy,
• dilated cardiomyopathy,
• arrhythmogenic cardiomyopathy,
• other cardiomyopathies,
• progressive cardiac conduction disorder,
• pulmonary hypertension,
• familial hypercholesterolemia,
• other lipid metabolism disorders.
Since September 2024, the CARDIOLIFE project has been able to develop its products and services for commercialization purposes on the open market with the help of financial support.
In addition, an article on research in the field of cardiogenetics was published in the journal Frontiers in Medicine.
Various scientific and educational events on research topics are regularly held, such as summer schools on cardiogenetics, round tables, conferences and the annual interdisciplinary forum of the Consortium "Genetics of Cardiovascular Diseases".
The International Bioinformatics Laboratory actively cooperates with leading world-class laboratories.
The presentation aroused interest among the staff of the Faculty of Cardiology, who emphasized the relevance of cardiogenetic tests.