The Laboratory of Genomic and Cellular Technologies was founded by the Honored Scientist, prof. Ruslan Makhmudovich Ruzybakiev (1941-2002) in 1999, as a laboratory of molecular diagnostics. From 2002 to 2014, it was headed by professor Tamara Uktamovna Aripova. From 2014 to the present, the laboratory has been headed by Tatyana Rudolfovna Hegay, MD, PhD. Based on the results of laboratory research, 2 doctoral and 5 PhD theses were prepared and defended.

Tatyana Rudolfovna Hegay is a senior researcher, Doctor of Medical Sciences.

Research area: population and medical genetics, genomic and cellular biotechnologies for industrial biomedicine.

 BRIEF INFORMATION

on the head of the Laboratory of Genomic and Cellular Technologies of the Institute of Human Immunology and Genomics of the Academy of Sciences of the Republic of Uzbekistan, Senior Researcher, Doctor of Medical Sciences, Tatyana Rudolfovna Hegay.

Hegay T.R. has been working at the Institute of Human Immunology and genomics of the Academy of Sciences of the Republic of Uzbekistan since 1999. In 2014, she was the first specialist in the Republic of Uzbekistan to defend her doctoral thesis on “Multigenetic landscape of Central Asia” in the medical specialties “Medical genetics” and “Allergology and immunology”.

The scientific directions are the study and practical implementation of topical issues of medical and population genetics – a comprehensive description of the evolutionary, socio-, biogenetic features of the structure of the gene pool of the peoples of Central Asia, where the ultimate goal of the work is to organize a scientific, practical, technological structure of a full cycle in the direction of “Personalized and translational biomedicine of multifactorial diseases” from immunogenomic work on target search to economic realization (biomedical services, production).

The fundamental cycle of works by T.R. Hegay is devoted to the current direction of biomedical genomics – the complex characterization of the structures of the gene pools of the indigenous peoples of Central Asia, the study of their sociogenetic, phylogenetic and evolutionary features. She was a participant and coordinator of more than 30 international expeditions in the countries of Central Asia, Siberia and Mongolia. There were studied 34 populations: Uzbeks, Karakalpaks, Kyrgyz, Kazakhs, Tajiks and Turkmens. For the first time, a biobank of the population of Central Asia was created, with more than 20,000 specimens from Pamir to Tian-Shang.

Together with colleagues and laboratory staff, T.R. Hegay created a wide range of analytical, bioinformatic, biotechnological, cultural, microbiological methods and technologies for the selection and validation of systemic approaches to ensure high-quality production of IVD-PCR reagents and cellular products. Human cell lines were cultured, and a biosafety passport was developed, taking into account genetic, immunological and microbiological indicators. Comprehensive genetic studies are carried out using sequencing, PCR in various modifications, MALDI-TOF, flow immunophenotyping, IHLA, etc. A Biobank has been created and continues to be replenished, including biomaterials of healthy control of 6 ethnic groups, as well as samples of relevant multifactorial pathologies. ISO 9001 and 13485 certificates have been obtained in the field of Biomedical and biotechnologies for production, relevant for identifying risk factors for infectious and multifactorial diseases.

She has published (the Hirsch Index is 17 according to Scopus) more than 100 scientific papers, including in leading international scientific publications such as Nature, Molecular.Bio.Evolution, PNAS, Current biology, Amer. J. of Human Genetics, PLoS Genetics, Europ. J. of Human Genetics, PLoS ONE, BMC Genetics and others.

Professional achievements had note: Winner of the international Awards TWAS (2014), Science leader (Web of Science Awards 2017), Top Researcher (Scopus awards 2018). She was award the Order of “Do’stlik” (2021), the badge “Excellent Health Worker of the Republic of Uzbekistan” (2023).

Akramova M. – junior researcher

Sabirzyanova L. – PhD, junior researcher

Karimova F. – junior researcher

Shayimkulov F. – junior researcher

Kasimov A. – junior researcher

Nikolayeva A. – junior researcher

Nagayev Sh – junior researcher

Raimhodjaeva N. – junior researcher

Dyo K. – junior researcher

Djuraeva D. – junior researcher

Batuxtina A. – laboratory assistant

Anikina I. – laboratory assistant

Development of new approaches and biomedical technologies for healthcare: genetic, immunological targets of acute and chronic immuno-mediated diseases.

Development of a cellular biosafety passport for the production of high-tech biomedical products.

Within the framework of State programs on scientific activities of the Ministry of Innovative Development of the Republic of Uzbekistan: FA-F-6-011 “Cellular and molecular mechanisms of formation of autoimmune inflammatory processes in oncological, autoimmune and metabolic pathologies” (fundamental project, 2017-2022).

Targeted financing of the Fund for the Support and Development of the Pharmaceutical Industry of the Republic of Uzbekistan: “Development of a biosafety passport for the production of high-tech biomedical products of cellular origin” (2023).

Some joint, international grants:

• FP 7 EU Foundation “Genetic Research of preeclampsia in populations of Central Asia and Europe” (2011-2016);
• “Study of epidemiologically significant genetic subtypes of HIV-1 circulating in the territories of Russia and Uzbekistan” (2012-2016)
• Decoding the complex evolution of genes for adaptation to diet (2011-2020)
• “|Immunodietology: regional features and key aspects in the development of autoimmune inflammatory conditions” (2023- present).

1. Monographs

“The family in Central Asia: Anthropological Genetics in Central Asia: on the settlement of the region and the interrelationships between cultural characteristics and genetic diversity”, edited by Sophie Roche, Berlin, 2018, Evelyn Ayer, Lor Sigurel, Tatiana Hegay.

1. Patents

There are 4 patents and copyright certificates in total, FAP – 01918 was obtained in 2022, “A method for isolating nucleic acids”, Hegai T.R., Kasimov A.E., Gaziev R.A.

1. Articles

There are more than 70 articles in total, the most significant:

Damgaard, P. D. B., Marchi, N., Rasmussen, S., Peyrot, M., Renaud, G., Korneliussen, T., … & Willerslev, E. (2018). 137 ancient human genomes from across the Eurasian steppes. Nature, 557(7705), 369-374.

https://doi.org/10.1038/s41586-018-0094-2

Marchi, N., Mennecier, P., Georges, M., Lafosse, S., Hegay, T., Dorzhu, C., … & Heyer, E. (2018). Close inbreeding and low genetic diversity in Inner Asian human populations despite geographical exogamy. Scientific reports, 8(1), 9397.

https://doi.org/10.1038/s41598-018-27047-3

Steinthorsdottir, V., McGinnis, R., Williams, N. O., Stefansdottir, L., Thorleifsson, G., Shooter, S., … & Morgan, L. (2020). Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women. Nature Communications, 11(1), 5976.

https://doi.org/10.1038/s41467-020-19733-6

Segurel, L., Guarino-Vignon, P., Marchi, N., Lafosse, S., Laurent, R., Bon, C., … & Heyer, E. (2020). Why and when was lactase persistence selected for? Insights from Central Asian herders and ancient DNA. PLoS biology, 18(6), e3000742.

https://doi.org/10.1371/journal.pbio.3000742

Sjöstrand, A. E., Sjödin, P., Hegay, T., Nikolaeva, A., Shayimkulov, F., Blum, M. G., … & Jakobsson, M. (2021). Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians. European Journal of Human Genetics, 29(2), 325-337.

https://doi.org/10.1038/s41431-020-00736-2

1. Guidelines

There are 11 in total, in recent years:

Agzamkhodzhaeva S.S., Azizov B.S., De K.G. Development of methods for early diagnosis of rosacea. // Methodological recommendations. Tashkent, 2020, -26 p.

Edited by the Director of the Institute of Human Immunology and Genomics of the Academy of Sciences of the Republic of Uzbekistan, MD, Academician Aripova T.U., Hegay T.R., Pulatov L.T., De K.G., Shayimkulov F.U., Kasymov A.E. Determination of genetically modified organisms (GMOs) in food products and food raw materials by polymerase chain reaction (PCR)// Methodological recommendations. Tashkent, 2021, -28 p.

Agzamkhodzhayeva S.S., Azizov B.S., De K.G, Raimkhodzhaeva N.Z. Diagnosis of rosacea risk based on a comprehensive analysis of platelet link genes and folate metabolism // Methodological recommendations. Tashkent, 2022, -30 p.

Akramova M.B., Karimova F.A., Hegai T.R. Requirements for maintaining aseptic conditions in special laboratories of cellular technologies. // Methodological recommendations. Tashkent, 2023, -28 p.

Republican research institutes and universities: Republican Specialized Scientific and Practical Medical Center for Maternal and Child Health, Tashkent Pharmaceutical Institute, Tashkent Medical Academy, Tashkent State Technical University named after I. Karimov, Republican Specialized Scientific and Practical Medical Center of Surgery named after Acad. V. Vakhidov.

Foreign research institutes: Federal State Budgetary Scientific Institution “Medical and Genetic Research Center named after Acad. N.P. Bochkov (Moscow, Russia), Museum of Human and National Museum of Natural Sciences (Paris, France), University of Toulouse (Toulouse, France), University of Montpellier (Montpellier, France) University of Nottingham (Nottingham, UK).

Private specialized companies: Immunogen test LLC, ROSSA LLC, Biomedical Innovation LLC, Immunohealth genesis LLC.

Professional non-governmental non-profit organizations: The Association of Biomedical Technologies of the Republic of Uzbekistan, the Association of Pediatricians of the Republic of Uzbekistan, the Association of Medical Geneticists of the Russian Federation, the Eurasian Association of Medical Geneticists.

As part of the implementation of PP-296 dated September 8, 2023 “On measures for the further development of the Maternal and child Health and reproductive Health of the population”, an industrial technology was developed for the production of real-time PCR kits for orphan diseases (2023-2024):

• Real-time PCR for quantitative detection of TREC and KREC, in whole blood and dry blood spots;
• Real-time multiplex SMA/PID PCR for simultaneous detection of homozygous deletion of exon 7 in the SMN1 gene and quantitative detection of TREC and KREC DNA ring structures in whole blood and dry blood spots;
• Real-time PCR to detect the carriage of 8 risky variants of the CFTR gene for the development of mucoviscidosis, in whole blood and dry blood spots.