- 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.
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.
Sergey P. Kovalenko
Head of Sequencing and Mathematical Modeling of the Transcriptome Lab
Sergey Petrovich Kovalenko — the Head of the Laboratory, Candidate of Biological Sciences, Assistant Professor. The author of over 50 publications in the field of genetic engineering and molecular genetics of cancer, the founder of the Russian company "BioLink" focused on the development and use of genodiagnostic systems in oncology. The scientific director of Bioron Diagnostics GmbH Company (Ludwigshafen,Germany).
Kamil Khafizov — research scientist, Ph.D., Head of Bioinformatics Group, author of over 15 publications in top international scientisic magazines, has ~10 years years of working experience in the leading research institutes in Europe and the United States, an expert in the field of molecular modeling and simulations of protein structures and analysis of biological data, the co-author of the popular bioinformatics product AlignMe for the analysis of the protein homology, the co-author of dozens protein structures (PDB).
Artem Sergeyevich Kasianov — research scientist, Candidate of Physical and Mathemetical Sciences, the author of 4 publications in top international scientisic magazines, the specialist in the development of new methods for the analysis of data obtained with the help of modern sequencing technologies.
Olga V. Glazova
Junior research scientist
Olga Vladimirovna Glazova — junior research scientist, the specialist of the next-generation sequencing, she developed and put into practice a system for the analysis of genetic cardiovascular diseases.