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Research Institute of Medical Genetics SB RAMS
10 Nab. Ushaiki, Tomsk 634050, RUSSIA
Приемная директора:
+7 (3822) 51-22-28;

Генетическая клиника
г.Томск, Московский тракт, 3 Регистратура:
+7 (3822) 53-05-37

Fax: +7 (3822) 51-37-44



The principle area of the Institute is the study of the structural and functional organization of human genome, genetic structure and hereditary pathology in Siberian populations, and development of principles of medical genetic consultation for people.

Investigations are carried out in the following fields:
  •  Study of the structural and functional organization of human genome, normal genetic variation and its impact to disease development;
  •  Study of genetic diversity in human populations, structure and evolution of gene pool principle mechanisms of genetic load in populations;
  •  Investigation of genetic basis for common disease predisposition;
  •  Development and implementation of new methods in genetic diagnostics and treatment of hereditary diseases;
  •  Study of epigenetic mechanisms of inheritance in living systems;
  •  Study of biological principles of chromosomal abnormalities in human cells at different stages of ontogenesis.

Main scientific achievements

Experience, knowledge and high creative potential of leaders and Institute’s researchers enabled them to attain the following scientific achievements:
  • The selective significance of the structural and functional chromosomal polymorphism in the prenatal period has been evaluated. The regional occurrence of different types of chromosomal abnormalities in children with malformations, couples with miscarriages and sterility has been studied. A number of rare syndromes have been described.
  • Characteristics of genetic demographic processes in populations of various ethnic groups in Siberia and adjacent regions have been studied; new data on factors of population dynamics, biochemical, molecular genetic and chromosomal polymorphism, and hereditary load of Siberian populations were obtained;
  • Functional and prognostic significance of polymorphisms in candidate genes for some complex disorders has been estimated for such diseases as bronchial asthma, atherosclerosis, arterial hypertension and its complications, types 1 and 2 diabetes, pregnancy complications, infectious diseases: tuberculosis, hepatites, salmonellosis, tick-borne encephalitis, and others.
  • The genetic basis for combination of different human diseases has been studied, and a concept of syntropic diseases and syntropic genes has been proposed.

The following pioneer studies have been performed in the Institute:

  • The gene pool of different indigenous and newly arrived populations of Siberia and Central Asia has been characterized with a wide range of marker systems, including analysis of Y-chromosome and mitochondrial DNA polymorphisms;
  • Reconstruction of molecular genetic processes of settlement in North Eurasia by euhominid has been conducted;
  • The origin, evolution, and phylogeography of uniparental lineages of Y-chromosome and mtDNA in populations of Siberia and Central Asia have been revealed;
  • The genetic test systems for diagnostics of susceptibility to several common human diseases have been developed;
  • The prenatal molecular cytogenetic diagnostics of monogenic diseases (cystic fibrosis, Duchenne muscular dystrophy, Von Willebrand disease, hemophilia, Charcot-Marie-Tooth disease, etc.) and chromosomal abnormalities in a fetus at the territory of Siberia in order to prevent the birth of children with hereditary pathology have been organized;
  • The following molecular cytogenetic approaches have been implemented into Russian medical practice: fluorescent in situ hybridization (FISH), suppression in situ hybridization (CISS), and comparative genome hybridization (CGH), which allowed the search and mapping of unique and repeating DNA sequences in human chromosomes;
  • Thecell-cycle-control CDC2 gene (1991) and the hereditary genodermatosis Keratosis pilaris gene (1999) were mapped by using molecular cytogenetics methods; a correlation was found between the number of trinucleotide repeats in the androgen receptor gene (AR) and embryo lethality in humans;
  • The role of uniparental disomy of chromosomes 2, 11, 14, 19, 20, and 21 in human ontogenesis pathology has been estimated under the studying of genomic imprinting phenomenon.  

For 25 years, 73 theses, including 10 theses for doctor degree, have been defended in the Institute. More than 1400 research papers have been published, including 14 monographs, 20 collections of research papers, 19 workbooks and manuals, and more than 700 papers, among which 45 papers published in international journals and about 300 papers in Russian peer-reviewed journals. 

 Activity In Medical Practice

Along with the basic scientific research in the field of medical and human genetics, the priority directions of the Institute are the specialized medical genetic aid to people of Siberia and Far East and training of medical personnel in medical genetics.
Medical activity of the Institute is mostly conducted through departments of the Genetic Clinic and includes:
-consultation and diagnostics of complex and rare hereditary diseases;
-development, testing, and adoption of advanced diagnostics, treatment, and rehabilitation  of patients with hereditary pathology.
Characteristics of the load of human hereditary diseases in populations with different genetic structure (Tomsk Region, Republic of Tuva, Republic of Sakha (Yakutiya), Republic of Altai, Republic of Khakassiya) have been studied.
The Institute has compiled the regional register of hereditary and congenital pathologies which includes more than 4000 units. The obtained data on occurrence of hereditary pathologies have formed the basis for monitoring of hereditary diseases and congenital malformations at the territory of the Tomsk Region.
A huge collection of biological material (biobank) has been compiled. It forms a basis for investigation of genetic diversity of populations, human evolution, and study of genetic basis for different diseases.
The collection includes:
- DNA bank of different ethnic groups of Siberia and Central Asia, including approximately 10 000 samples from more than 90 populations;
- DNA bank of families with monogenic and chromosomal diseases;
- DNA bank of spontaneously aborted fetuses and embryos;
- Cell and DNA bank of people subjected to factors of nuclear chemical industry;
- DNA bank of patients with complex disorders (cardiovascular disease, diabetes, bronchial asthma, tuberculosis, pregnancy complications, and infectious pathology).
The Institute supports significantly in problems solving of social field and public health care at the territory of the Tomsk Region by taking part in development and implementation of regional programs: “Optimization of Planning of Natural, Production, and Intellectual Resources in the Tomsk Region”, “Prevention of Hereditary Diseases and congenital malformations in the Tomsk Region”, “Family Planning”, “Human Health in Siberia”.
The staff of the Institute worked and continues to work actively on some State Scientific and Technical Programs of Russian scientific foundations: “Chernobyl”, “Health of Russian Population”, “Children of the North”, “Fight against Most Common Diseases”, “Human Genome”, “Investigations and Developments in the Priority Fields of Science and Technology 2002-2006”, “Investigations and Developments in the Priority Fields of Science and Technology Complex in Russia for 2007-2012”, Russian Foundation for Basic Research (RFBR), Russian Foundation for Humanitarian Sciences (RFHR).

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