1. Study of human gene splicing in normal and pathological conditions. During my work as a researcher in Laboratory of inherited metabolic diseases, I performed more than hundred RNA analyses for families with genetic diseases. I routinely perform RNA extraction from various patients’ tissues and design primers for subsequent analysis using RT-PCR or qPCR. In cases where the studied gene is not expressed in accessible tissues and the identified variant is predicted to affect splicing, I use “minigene” technique to assess its spliceogenicity.2. Study of the molecular mechanism of pathogenesis of rare genetic variants. Using various methods from functional genomics field, I characterized a number of very rare types of genetic variants, including processed pseudogene insertion in the GLB1 gene and SVA-retrotransposon insertion in the GAA gene. 3. Development of approaches to genetic therapy based on antisense molecules.I design and test splice-modulating molecules based on modified U7 and U1 small nuclear RNA genes, cloned into expression vectors. I have experience in creating such constructs for both effective stimulation of exon inclusion and exon skipping, which allowed me to correct a number of spliceogenic variants in model cell lines. I also have experience in production of adeno-associated viruses and lentiviruses and transduction of patients’ primary cell lines with splice-modulating constructs.4. Molecular genetic diagnostics.I routinely perform PCR-based analyses and interpretation of results. I also designed a number of MLPA panels and real-time PCR-based tests for detection of deletions and point mutations.I analyze the WGS and WES data using assembled bioinformatics pipelines.5. Diagnostics of mitochondrial diseases. During the work on my PhD thesis, I designed and performed real-time PCR-based analysis of mitochondrial DNA copy numbers and heteroplasmy levels in samples of patients with mitochondrial DNA maintenance disorders and patients with mtDNA deletions. I also performed molecular genetic diagnostics of this subgroup of mitochondrial diseases and analyzed genotype-phenotype correlations.