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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:
Main scientific achievements
Experience, knowledge and high creative potential of leaders and Institute’s researchers enabled them to attain the following scientific achievements:
The following pioneer studies have been performed in the Institute:
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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