Laboratory of Functional Genomics of Cardiovascular Diseases

Laboratory team and PhD students study the structure and functions of the genome and its expression in polygenic diseases, develop new ones and improve existing methods of genodiagnostics and treatment of these diseases. The laboratory is conducting studies of the molecular basis of genetic susceptibility to polygenic cardiovascular diseases (CVD): myocardial infarction, ishemic stroke, arterial hypertension, vasovagal syncopes; genetic markers that determine specificities of their clinical course are being sought. Special attention is given to the identification of composite markers, combining the carriage of multiple genetic variants of several genes, as well as traditional risk factors of CVD. The main epigenetic investigations of the laboratory are directed to the exploring the regulatory role of miRNA in the development of CVD. Similar genetic and epigenetic studies are being conducted on multiple sclerosis.

Scientific research is supported by grants from the Russian Foundation for Basic Research and the Russian Science Foundation. A youth scientific group of genomic and epigenomic research was established within the laboratory. The laboratory works in close cooperation with the Myasnikov Institute of Clinical Cardiology of National Medical Research Center of Cardiology of the Ministry of Healthcare of the Russian Federation, with other leading Russian Medical Institutions and the

Institutes of the Russian Academy of Sciences.

Main areas of work:

- The study of the molecular basis of genetic susceptibility to polygenic CVDs: myocardial infarction, vasovagal syncopes and ischemic stroke.

- The search for genetic markers, determining the age of onset, the clinical course and post-infarction event prognosis.

- Pharmacogenomic studies of the response to immunomodulatory drugs in multiple sclerosis.

- Analysis of differential expression of regulatory miRNAs in biological samples of patients with CVDs (myocardial infarction, chronic heart failure, atherosclerosis), as well as multiple sclerosis patients using high throughput sequencing (NGS).

- Whole-transcriptome analysis of gene expression and whole-genome analysis of DNA methylation in multiple sclerosis patients.

- The development of bioinformatic approach to investigate the functional role of separate miRNAs using network-based enrichment analysis of its target genes.

- Diagnostics of rare monogenic CVD – family hyperaldosteronism type I. Among 330 patients with primarily hyperaldosteronism two were shown to carry chimeric CYP11B2/CYP11B1 gene. A family analysis for these patients identified relatives carrying the chimeric gene.

Head of the laboratory - Professor Olga O. FAVOROVA