Research Centre for Medical Genetics
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The "Genetic Resources of Russia" Scientific Forum is set to become an annual event

The first event was held under the auspices of the Vavilov Society of Geneticists and Breeders on the basis of the St. Petersburg Scientific Center of the Russian Academy of Sciences on June 21-24, 2022. More than 500 specialists registered for it, 284 of them took part in offline events. Online broadcasting reached a wide audience: the opening plenary session was followed by more than 1,500 viewers from 100 research institutions and universities in Russia. The conferences were attended by specialists from more than 50 regions of the Russian Federation, as well as from Armenia and Belarus. The Forum included 2 plenary sessions and 9 conferences dedicated to various types of bioresource collections, to the research, maintenance and replenishment of these collections. A satellite event "Legal regulation and standards for working with bioresource collections" was held in format of a round table. The results of the Forum, as well as the results of the round table "Regulatory regulation and standards for working with bioresource collections", were discussed on June 29 at the session "Genetics and Law: Challenges of the Time 2020-2030" for the X St. Petersburg International Legal Forum. Valery Falkov, Minister of Science and Higher Education of the Russian Federation, emphasized that bioresource centers and bioresource collections are one of the fastest growing areas at the intersection of biotechnology and informatics, and the attention to them is growing at governmental level.

- We see three main areas of work. The first is the standardization of the activities of bioresource collections. It is necessary to streamline, structure and regulate the various types of collections that have been formed in Russia over many decades. Secondly, it is necessary to ensure consistent and complete legal regulation of this sphere. To do this, it is necessary to develop a basic federal law on bioresource collections and correlate it with existing norms. Finally, the third task is the creation of the National Genetic Information Base. It should reflect all the richness and diversity of existing collections and biobanks, be easily operated and meet the goals of national security, - said Valery Falkov.

Maria Vorontsova, Member of the Presidium of the Russian Association for the Advancement of Science, moderated the session "Genetics and Law: Challenges of the Decade 2020-2030". She emphasized that the development of bioresource collections as the basis for the development of agriculture, medicine and new modern technologies is found to be at the forefront of the bioeconomy today.

- Bioresource collections in Russia are very diverse, each collection is important in its own way. They went through the crises that were in the world and in our country. Today we have a treasure that we must preserve. I am sure that we have the resources for this and we are all focused on one good deed, - said Maria Vorontsova.

National Center for Plant Genetic Resources

More than 250 collections of genetic resources of 10 different types are registered in Russia. Today, there is a tendency to integrate collections of one type of large bioresource centers according to the network principle. This ensures the preservation and development of collections in accordance with world standards. It also makes it possible to use them rationally in frame of the Strategy for Scientific, Technological and Economic Development of Russia. The National Center for Plant Genetic Resources is being created on the basis of the "All-Russian Institute of Plant Genetic Resources named after N.I. Vavilov" Federal Research Center, where the famous Vavilov collection is located today. This project was based on Decrees of the President of the Russian Federation No. 44, No. 45, from February 2022. In the future, it is planned to create similar centers on a national scale for collections of other types.

All-Russian School-Conference "Bioresource Collections of Biological Samples of Patients with Genetic Diseases", the Research Centre for Medical Genetics

The All-Russian School-Conference “Bioresource Collections of Biological Samples of Patients with Genetic Diseases” was held within the framework of the Forum. It was organized by the Research Centre for Medical Genetics. About 80 people from different institutions of Moscow, Tomsk, St. Petersburg, Novosibirsk and Ufa took part in the school-conference of the Research Centre for Medical Genetics. Issues of both the creation of bioresource collections and their use for scientific purposes were discussed.

- Bioresource collections of biological samples are in great demand both in fundamental and applied science. In our field of medical genetics, each sample is unique in its genetic and phenotypic characteristics, - said Mikhail Skoblov, the organizer of the All-Russian School-Conference, Head of the Laboratory of Functional Genomics of the Research Centre for Medical Genetics, Ph.D., - All over the world, such collections serve as basis for various studies and help to reach high-level results, as they allow to identify things that are simply impossible to detect using other methods. At the Research Centre for Medical Genetics, such collections have existed for a long time; unique samples are collected during DNA diagnostics by each laboratory. But these collections are fragmented and not always qualitatively characterized. The creation of a centralized biobank that operates according to unified protocols and makes samples available to all interested scientific and commercial laboratories - this is what is happening now at the Research Centre for Medical Genetics, and we are all very happy about this.

The creation of the "All-Russian Collection of Biological Samples for Hereditary Diseases" Network Center for Collective Use is carried out within the framework of a grant from the Ministry of Science and Higher Education of Russia. The network center will unite the biological collections of the Research Centre for Medical Genetics and the Tomsk National Research Medical Center of the Russian Academy of Sciences. Petr Sparber, a junior researcher at the Laboratory of Functional Genomics of the Research Centre for Medical Genetics, shared the further prospects for the development of the Network Center in his report.

- It is planned to develop a digital infrastructure of the Network Center for Collective Use, which will provide quick access to samples. The network center will be replenished with 27,000 biological samples over the next three years. It will also contain 700 cell cultures and 130 organoid and iPSC cultures. In addition, 60 3D masks and questionnaires resulted from deep phenotyping data, will be available to specialists. According to the results of the work, it is planned to publish at least 23 WoS articles, - said Peter Sparber.

On the second day, a school on medical genetics for young scientists was held within the framework of the conference. Researchers of the Scientific Advisory Department of the Research Centre for Medical Genetics held a master class on obtaining 3D masks of the facial part of the skull. More than 5200 hereditary diseases, according to human phenotype ontology (HPO), have features of the phenotype of the facial part of the skull, described in 1043 HPO terms. The use of terms in practice largely depends on the level of qualification of the doctor, his clinical experience and subjective interpretation. Comparison of 3D masks of patients with the same molecular genetic diagnoses will reveal new patterns that are invisible to the human eye. A master class on describing the clinical picture using international HPO terminology was also organized, along with other events.

The All-Russian School-Conference “Bioresource Collections of Biological Samples of Patients with Genetic Diseases” will become an annual event within the framework of the Forum.

The materials of the Forum can be found at https://brc2022.vogis.org/category/news/