More than 600 Specialists from 10 Countries Took Part in the Conference Dedicated to the 40th Anniversary of the Tomsk Institute for Medical Genetics

The XIII scientific conference «Human Genetics and Pathology» was attended by more than 600 people from 77 cities and 10 countries - leading Russian and foreign experts.

Within three days, specialists in medical genetics, bioethics, molecular genetic technology and bio-informatics shared their experiences and presented the results of recent research.

From the Research Centre for Medical Genetics the conference was attended by:

Vera Izhevskaya, Holder of an Advanced Doctorate in Medical Sciences, Deputy Director for scientific work
Alexander Polyakov, professor, Holder of an Advanced Doctorate in Biological Sciences, Head of the DNA-diagnostics laboratory, corresponding member of the Russian Academy of Sciences
Ekaterina Zakharova, Holder of an Advanced Doctorate in Medical Sciences, Head of the hereditary metabolic diseases laboratory
Nadezhda Shilova, Holder of an Advanced Doctorate in Medical Sciences, Head of cytogenetics laboratory

The conference was dedicated to the 40th anniversary of the Research Institute for Medical Genetics of Tomsk NMRC. Valeriy Puzyrev, scientific director of the Tomsk NMRC, academician of the Russian Academy of Sciences, told about the main stages of the Institute’s formation in the plenary lecture «Origins and Soviet Period of the History of the Tomsk Institute for Medical Genetics». A separate symposium «Genetics and Epigenetics of Development» was devoted to the memory of V.S. Baranov, the corresponding member of the Russian Academy of Sciences, and S.A. Nazarenko, the corresponding member of RAS.

“Of course, genetics can be called a link in modern biomedicine. There is a whole range of directions connected with the introduction of fundamental knowledge into clinical practice. These include, for example, diagnostics and prevention of hereditary diseases, targeted treatment of cancer, as well as identification of diseases of the cardiovascular system caused by genetic causes. Introduction of achievements of scientists into practice as soon as possible is not only a trend, it is a necessity, which guides our work aimed at ensuring the quality of life of patients and strengthening the technological sovereignity of our country”, - said Vadim Stepanov, director of Tomsk NMRC, academician of the Russian Academy of Sciences.

The intensive scientific programme of the conference included symposiums on clinical genetics and orphaned diseases, genetics and epigenetics of multi-factor diseases, modeling of hereditary diseases, evolutionary and population genetics, prenatal and pre-implantation genetic testing, cytogenetics and chromosomal diseases, omix technologies in medical genetics, bioethics. More than 200 people became full-time participants of the professional dialogue, more than 400 joined the discussion online. The experts presented the results of the research, shared the achievements and discussed various aspects of their work.

Vera Izhevskaya, Holder of an Advanced Doctorate in Medical Sciences, Deputy Director for scientific work of the Research Centre for Medical Genetics, chairman of the Russian society of medical geneticists, gave a report «Genomic Testing: Dialogue of a Doctor-geneticist and a Patient».

“The moral and ethical aspect of understanding the results of genomic research is very relevant today. In genomic testing we get a lot of information, and the dialogue of a doctor and a patient plays a big role, because it is important that this information will benefit a patient. In some ways, genetic technology has been left in legal vacuum. Important features of genetic information, such as the fact that it is family-related, have not yet been considered. Genomic testing still balances on the edge of science and practice and requires very serious thinking from specialists”, - said Vera Izhevskaya.

Vera Izhevskaya highly appreciated the joint work with Tomsk colleagues: “Traditionally, we cooperate closely in different fields. Tomsk Institute is the largest genetic centre in Siberia, there are original scientific schools and we are pleased to share information with colleagues, and after the pandemic - and also to meet in person. The conference gave the opportunity of professional communication, it allows to establish new contacts and to look at different questions”.

Sofia Pchelina, Holder of an Advanced Doctorate in Biological Sciences, Head of the laboratory of human molecular genetics of the St. Petersburg Institute for Nuclear Physics («Kurchatovsky Institute»), gave a report «The Role of Lipid Metabolism in the Development of Parkinson Disease».

“My colleagues and I are studying the causes of a common neurodegenerative disease - Parkinson disease. Many believe that this disease has no hereditary component, but over the past 20 years many monogenic forms of the disease have been described. Also in the field of our scientific interests - the study of the hereditary foundations of dyslipidemia: diseases associated with lipid metabolism disorder. We have a long-term friendship with colleagues from the Research Centre for Medical Genetics, I have participated in the conference not for the first time and every time with great pleasure I come to Tomsk”, - said Sofia Pchelina.

Vadim Stepanov, Director of Tomsk NMRC, academician of the Russian Academy of Sciences,

Igor Lebedev, professor, Holder of an Advanced Doctorate in Biological Sciences, Deputy Director for scientific work of Tomsk NMRC,

Nikolay Yankovskiy, Holder of an Advanced Doctorate in Biological Sciences, academician of the Russian Academy of Sciences (Institute for General Genetics named after N.I. Vavilov, Moscow),

Alexander Polyakov, Holder of an Advanced Doctorate in Biological Sciences, corresponding member of RAS (Research Centre for Medical Genetics, Moscow),

Viktor Tarabykin, Holder of an Advanced Doctorate in Biological Sciences (Nizhny Novgorod State University named after N.I. Lobachevsky),

Andrey Kozlov, Holder of an Advanced Doctorate in Biological Sciences (St. Petersburg Polytechnic University of Peter the Great),

Andrey Serov, Holder of an Advanced Doctorate in Biological Sciences (Institute of Cytology and Genetics of the SD RAS, Novosibirsk),

Elena Zaklyazminskaya, Holder of an Advanced Doctorate in Medical Sciences (Russian Scientific Centre for Surgery named after the academician B.V. Petrovskiy, Moscow)

Kim Hie Lim (Singapore), Joris Vermeesch (Belgium), Thomas Liehr (Germany), Andres Salumets (Estonia) and many others.

Specialists placed special emphasis on the organization of expanded neonatal screening for 36 hereditary diseases, which begins in Russia in 2023, as well as the provision of medical assistance to patients with orphan hereditary diseases. The heads of the regional medical genetic services discussed key issues of the organization of extended screening and shared their experience at the Round Table in the Medical Genetic Centre (Genetic Clinic) of the Research Institute for Medical Genetics of Tomsk NMRC.

“Communication with colleagues and their experience, presented at the conference, allow us to focus on the achievements of modern clinical genetics, charge energy for the future. Besides, Tomsk is a beautiful city, to which we come as a native! Thanks to the people who live and work here!”, - noted geneticist Olga Kim, who came to the conference from Chelyabinsk as a listener.

“I studied here in Tomsk and came here as in Alma Mater, to teachers and colleagues. My report was about a unique patient that we identified through molecular genetic diagnostics, and now she’s in treatment; it was very important to share our experience with colleagues, professionals in the field of medical genetics”, - said the conference participant Alena Pobedinskaya (Chelyabinsk).

Traditionally, the programme of the conference included a contest of reports of young scientists, the results of which were summed up on November 22, 2022. at the solemn closing of the event. Valeriya Kovalskaya, scientific researcher of SRC «Genome» at RCMG, and Olga Shatokhina, PhD, senior researcher of SRC “Genome” at RCMG, took the second and the third places. The winners received valuable prizes.

Web-site of the Conference: https://conference.medgenetics.ru/