RFFI provided grants to support scientific research of RCMG postgraduate students

Petr Andreyevich Sparber and Daria Alexandrovna Yurchenko, the postgraduate students of the Research Center for Medical Genetics, won the RFFI contest for the best projects of fundamental scientific research carried out by young scientists studying at the postgraduate level.

Petr Andreyevich Sparber, the researcher at the Functional Genomics Laboratory, focused in his work on the study of SCN1A gene splicing in health and disease.

Pathogenic variants in the SCN1A gene are the most frequent genetically determined epilepsy in children. As part of this work, a system will be created allowing to study the splicing of all SCN1A gene protein-coding exons in health and to analyze the splicing disorders caused by pathogenic variants described in international databases and revealed in Russian patients. Such system approach may reveal some important regulatory sequences necessary for the correct SCN1A gene splicing and establish mechanism of molecular pathogenesis in SCN1A-associated epilepsy.

Daria Alexandrovna Yurchenko, a postgraduate student at the Cytogenetics Laboratory, will study the genetic heterogeneity of inverted duplications with adjacent deletions. Inverted duplications with adjacent deletions (inv dup del) are rare complex chromosomal rearrangements. Accumulation of data on spectrum, structure and mechanisms of inv dup del formation is an important task not only for domestic but also for world medical genetics. It is also important to evaluate the possibilities and limitations of methods used to diagnose chromosomal/genomic imbalances due to the presence of rearrangement in inv dup del genome, and to develop a protocol of diagnostic measures for both patients and parents planning further childbearing.