Genome of Russia
The present and future of genomic research
More than two hundred listeners gathered at the open conference on human population and medical genetics "Genome of Russia", which took place in the Hypercube of the Skolkovo Innovation Center on April 14.
Among the speakers are leading Russian and foreign experts in the field of human population genetics, leaders of international and national genomic projects.
Large-scale genome sequencing projects in different countries are primarily aimed at searching for disease genes, stratification of clinical trials, as well as reconstruction of the history of states and peoples. Similar studies are being conducted in the USA, Great Britain, China, Qatar, Saudi Arabia and Scandinavian countries. Despite the fact that genogeography, the study of the distribution of various genes, has existed in Russia for more than a hundred years, national programs for genome-wide sequencing are just emerging.
In many ways, the conference was held thanks to Skolkovo's scientific ties with the University of South Carolina in Los Angeles. The idea of bringing together prominent scientists working with genomes to exchange experiences, discuss the current level of genomic research, as well as prospects and ways of developing population genetics in Russia is told by the co-chairman of the conference, Yuri Nikolsky, Director of Science of the Biomedical Technologies cluster of the Skolkovo Foundation:
"Skolkovo has been interacting with the University of Southern California for a very long time through a well-known professor, anesthesiologist Vladimir Zelman. Two years ago, the Skolkovo delegation visited the University and the famous Children's Hospital in Los Angeles, since then our friendship began. In particular, Professor Tatiana Tatarinova (co–chair of the conference - editor's note) began to visit Russia often, where she had many collaborations; she became a Skolkovo expert and the founder of one of the startups. At the end of 2015, we decided to hold a conference dedicated to national genotyping and sequencing programs of the population, primarily in Russia."
The research discussed at the conference was divided into three thematic blocks: global genomic initiatives; paleogenetics, history, linguistics; clinical applications of genetic data.
Global genomic initiatives
The first three reports were devoted to the Russian Genomes project, launched a year ago and supported by the President. The project is being implemented on the basis of two laboratories of St. Petersburg State University: the F.G. Dobrzhansky Center for Genomic Bioinformatics, created 5 years ago during the implementation of the state megagrant program, and the Center for Algorithmic Biotechnology under the leadership of Pavel Pevzner, formed within the framework of the St. Petersburg State University's own megagrant program. Colleagues from various regions of Russia and the St. Petersburg State University Computing Center are also involved in the project.
Sergey Pavlovich Tunik, Vice-Rector for Research at St. Petersburg State University, spoke about the organizational aspects of the work on "Russian Genomes", mentioning that the presentation of the project in 2015 "caused controversy", but its "implementation was deemed appropriate". According to him, by now the organizational structure of the project has been built, the necessary experimental base has been created, 2 expeditions have been conducted, 9 more are planned this year. One of the pressing legal issues is the development of rules for working with personal data of donors. "We consider this project as one of the highest priorities for St. Petersburg University in the near future," Sergey Tunik stressed.
Speaking about the practical side of the project, Vladimir Bryukhin from the F.G. Dobrzhansky Center for Genomic Bioinformatics focused on goals and approaches. The mission of the project is to collect genetic data in the Russian Federation from a medical–genetic and historical perspective: to identify the recombination frequencies of haplotypes characteristic of certain ethnic and geographical populations, blood samples from family triads (biological parents and their children) are collected. The planned sample size is 2500 people.
Stephen O'Brien, an American geneticist who coordinates the work of the Russian Genomes project at the F.G. Dobrzhansky Center for Genomic Bioinformatics, clarified that one of the tasks of the ongoing research is to test the hypothesis of human migration in the last few tens of thousands of years. At the same time, he believes that the collection of clinical data within the framework of the project is a matter of the future. At the moment, the genetic data of 923 people representing the ethnic groups of Bashkirs, Tatars, Chechens, Kalmyks, Karachays and Balkars have been collected within the framework of the project with the help of anthropologists.
Khalid Farho (Sidra Medical and Research Center) focused his talk on population and clinical genomics in Qatar. Qatar is the first country that announced three years ago that it was going to sequence absolutely all of its residents. It turns out that the population of the country is very heterogeneous and the ancestral gene pool for European populations can be traced in its genetic diversity.
Oleg Gusev (Kazan Federal University) told about one of the best programs in the world for genotyping the population in Japan on the basis of RIKEN – the Japanese Institute of Physico-Chemical Research. Genotyping studies have allowed us to establish an innate risk for cancer, demonstrating the practical application of fundamental research. A genetic laboratory was created in KFU together with RIKEN, headed by Oleg Gusev. In addition, his company has recently become a resident of Skolkovo, which should help to continue genetic research in Tatarstan.
Paleogenetics, history, linguistics
The block of reports "Paleogenetics, History, Linguistics" combined the speeches of scientists devoted to fundamental research of the world genetic diversity.
Tatiana Grigorieva (KFU) spoke about the compilation of the genetic atlas of the Republic of Tatarstan in close cooperation of physicians, geneticists, historians, biologists, anthropologists and other specialists. Egor Prokhorchuk (Bioengineering Center of the Russian Academy of Sciences) shared the difficulties of analyzing the genetic data of modern ethnic groups in Russia and the experience of working with paleomaterials.
The discussion was sparked by a report by Eran Elhaik (The University of Sheffield) entitled "The Missing link in the origin of the Jews of Europe", in which genetic data were used to clarify the origins of the Yiddish language and the gene pool of Ashkenazi Jews. Mathematician and co-chair of the conference Tatiana Tatarinova (USC, CHLA) presented the reAdmix program, which allows modeling an individual genotype as a mixture of genotypes. Its use on the inhabitants of Siberia, the Ketas, allowed us to establish their proximity to the Paleo-Eskimos.
Elsa Khusnutdinova (Institute of Biochemistry and Genetics, UNC RAS) presented a thorough study of the structure of the gene pool and genetic history of modern peoples of the Volga-Ural region, Central Asia, Siberia and the North Caucasus. In particular, the South Siberian origin of a single genetic layer was shown in all Turkic-speaking groups. In turn, Oleg Balanovsky (Institute of General Genetics of the Russian Academy of Sciences) made a retrospective and perspective review of the research of the gene pool of the peoples of Russia.
Clinical applications of genetic data
The final block of reports was devoted to the use of genetic data in medicine. So, Svetlana Borinskaya (Institute of General Genetics of the Russian Academy of Sciences) demonstrated how the study of genetic data opens the way to the development and repositioning of drugs.
Nadezhda Maksimova (Northeastern Federal University) shared the most important discoveries of new genes and mutations in Yakuts, which represent a "genetic isolate". As a result of molecular genetic studies, the genes of a rare hereditary disease, SOPH syndrome, were discovered, in which the optic nerves are damaged and immunodeficiency develops in infants, and mutations in the genes of rare diseases were also detected.
Svetlana Limborskaya from the Institute of Molecular Genetics of the Russian Academy of Sciences drew the attention of the audience to the revealed ethnogenetic difference in the reaction of cancer patients to chemical therapy. In her speech, Svetlana Gorokhova (Russian Railways Scientific and Clinical Center) analyzed genotyping as a method for determining the risk of cardiovascular diseases among Russian Railways drivers and the feasibility of screening for the main diseases of this group based on clinical and economic analysis.
Two reports were made by representatives of Ibinom, a strong bioinformatics group that analyzes SNP and NGS sequencing data. The company became a resident of Skolkovo and recently received a grant from the foundation for the further development of a cloud service for medical interpretation of genetic data. Daria Yakovishina demonstrated that full-genome sequencing data is preferable for detecting variations in the number of copies of genes that cause certain diseases. Ilya Korvigo spoke about the use of neural networks to assess the pathogenicity of mutations.
The sponsors Thermo Fisher Scientific, a leading manufacturer of equipment for clinical laboratory diagnostics, and Albiogen, a service company of Illumina products, presented their developments to the conference participants. A workshop on the implementation of the Russian Genomes project was also held within the framework of the conference.
In conclusion, Yuri Nikolsky shared his plans for the future: "This was the first scientific conference in Skolkovo on the human genome, I think we will continue holding such conferences. If we talk about the cluster, the agricultural direction is developing very rapidly now: recently there was a conference on point farming that aroused great interest. By the end of the year, three more agricultural competitions will be held: on genetics and breeding, on point farming and on processing of raw materials."
The organizers expect that the conference will create new scientific ties, as well as contribute to the emergence of new projects for Skolkovo and Skoltech.
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20.04.2016