Population genetics and polygenic non-communicable diseases

Area-wise research

• Obtaining standardized data on genotyping of a national population cohort for biomedical use.
  
• Carrying out an in-depth analysis of genotype-phenotype correlations and identifying new potential areas for the prevention of chronic non-communicable diseases of polygenic origin in order to create personalized preventive programmes.
  
• Developing personalized CVD risk prediction programmes based on ‘omics technologies.
  

Expected results

New methods will be developed for the analysis of polygenic phenotypes, in particular, methods for the interpretation of GWAS results and the identification of associated genes. A model will be built to determine the most relevant phenotypic factors affecting the development of metabolic disorders and heart failure.

Risk factors for polygenic diseases will be identified using a genome-wide association study focusing on the association between genomic variants and phenotypic traits (GWAS).

A reference database of genomic data for the Russian population will be created (within the Leningrad region).

Both the spectrum of genetic determinants associated with an altered pharmacological response to the listed classes of drugs and a list of clinical conditions and factors affecting the prediction of the efficacy and safety of standard therapy will be analyzed and identified.

A model will be built for personalized diagnosis, prognosis and management of patients with metabolic disorders, obesity and type 2 diabetes.

Based on the obtained lipidomic analysis data, personalized cardiovascular risk prediction programmes will be developed to determine the list of clinical characteristics indicative of an unfavorable prognosis upon admission of a patient with acute coronary syndrome that would predetermine the choice of a more aggressive therapeutic and interventional strategy.