Research Centre for Medical Genetics
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RCMG hosted discussion on medical genetics at the Technosreda Festival as part of the Year of Science and Technology

The Technosreda Festival became one of the key events of the Year of Science and Technology. Leading science and technology companies, universities and research institutes presented their projects to VDNH visitors. The main host of the festival was the Ministry of Science and Higher Education of the Russian Federation, co-organizers were Znanie Russian Society and MIPT.

The Academician N.P. Bochkov Research Centre for Medical Genetics hosted a discussion on the development of medical genetics as part of the Techno-environment festival. Mikhail Skoblov, Candidate of biology sci., Head of the RCMG Functional Genomics Laboratory; Pavel Volchkov, Candidate of biology sci., Head of the MIPT Genomic Engineering Laboratory, Director of the Institute of Personalized Medicine at the National Medical Research Centre for Endocrinology; Olga Shchagina, Candidate of med. sci., Head of the RCMG Molecular Genetic Diagnoses Laboratory; and Pavel Makarevich, Head of Genetic Cell Therapy Laboratory at the Institute of Regenerative Medicine of the University Hospital, associate professor of the Department of Fundamental Medicine at Lomonosov Moscow State University, winner of the Moscow Government Prize for Young Scientists took part in the discussion. The host was Yulia Mushtakova, the RCMG press secretary.

Creation of bio-resource collections is one of the aims of the Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019-2027. The Russian Ministry of Science and Higher Education supported 15 applications for the creation of new bio-resource collections this year alone. The Academician N.P. Bochkov Research Centre for Medical Genetics will develop a Centre for Collective Use of Biological Samples of Patients with Genetic Diseases. Mikhail Skoblov, Head of the RCMG Functional Genomics Laboratory, spoke in more detail about why such a Centre was necessary.

“This is an extremely important project for us. Several years ago, RCMG created its own biobank; it has already brought tangible benefits to both RCMG patients and specialists. The out-of-town patients are now able to go home without waiting for the end of a long diagnostic procedure; diagnostic laboratories are able to perform multiple molecular genetic studies to find the causes of a disease; research departments can study molecular processes on patient samples and develop approaches to therapy. It is important that such Network Centre for collective use of the bio-resource collection is not only in high demand by all RCMG units, it is also important for external interactions with both scientific and commercial organizations,” Mikhail Skoblov said.

Modern gene therapy drugs change lives of orphan diseases patients. The Technosreda Festival audience had some questions, namely, who should fear the development of genetic diseases and why the drugs for their treatment are so expensive. Pavel Volchkov emphasized that the development of diagnostic approaches plays a crucial role not only in terms of medicine, but also it is of social and economic importance.

“I am often asked why we deal with rare diseases, while the problems of diabetes mellitus, cancer, and cardiovascular diseases seem to be more pressing. The answer is simple - the development of gene therapy is a unique scientific, instrumental and financial-economic driver. Subsequently, it will help us to treat socially significant diseases that affect a large number of people. In addition, more and more funds are invested today in the development of diagnosing genetic diseases methods, which will also lead to increased costs for the gene therapy drugs purchase,” Pavel Volchkov explained.

Pavel Makarevich, Head of Genetic Cell Therapy Laboratory at the Institute of Regenerative Medicine of the University Hospital, answered questions about how gene therapy drugs work. He stressed that general audience often misunderstands the difference between the promising method of genomic editing, which is under development now, and the existing drugs. Hence, various concerns related to the gene therapy exist, so it is important to explain the fundamental difference in approaches and prevent the emergence of various misconceptions and myths.

Olga Shchagina, Head of the RCMG Molecular Genetic Diagnoses Laboratory, told about the laboratory operation. It deals with the diagnosis of hereditary diseases, including prenatal diagnosis, and the Laboratory carries out pilot projects of mass and selective DNA-screening. The researchers study genetic heterogeneity and its impact on the diversity of variants manifestations in the DNA sequence. The results of genomic and exome studies are used to create targeted diagnostic systems. Olga Shchagina also explained to the festival audience what genetic studies were, what methods they used, and on which specific questions the genetic tests provided answers, and why diagnosis could take a long time.

 “A scientist, like a physician, should try to communicate the purpose and nature of the research to the patient in plain language and simple examples; discuss all possible outcomes and options for the family based on the information received. Open dialogue is the only way to avoid overstated or understated expectations the family has about the results of genetic research,” Olga Shchagina emphasized.

The discussion participants pointed out that public representation was important to form the right ideas about today's possibilities of medical genetics and the achievements of Russian specialists.