The diagnosis system of rare genetic diseases with the use of next-generation sequencing (NGS), developed in the laboratory, is designed to diagnose over 60 diseases by detecting at least 1500 of the known mutations in 60 genes. Nowadays, as a result of the joint work of medical genetics, molecular biologists and bioinformatics, the socially significant monogenic hereditary diseases caused by single-nucleotide substitutions, short insertions and deletions were selected, the database of the mutations associated with the most common hereditary diseases was created, and the algorithms for the analysis of DNA sequences were implemented. The primer panel for targeted amplification of genes associated with 60 hereditary diseases (about 450 pairs of primers) was developed and partially tested. The research work on the creation of the forecating system of the effect of mutations on the structural and functional properties of proteins encoded by the genes, in which mutations cause rare diseases, was carried out.
The system of genetic diseases analysis, the first system in Russia, focused on the screening of the carriers of genetic defects associated with hereditary diseases was created in the laboratory. Such systems only begin to develop abroad.
- The development of the analysis system of hereditary respiratory diseases based on the next-generation sequencing
- The development of the analysis system of hereditary oncological diseases based on the next-generation sequencing
- The development of the software package that allows forecasting the effect of mutations on the structural and functional protein properties.
