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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



Main historical events of the Institute

The Department of Medical Genetics of the Institute of Medical Genetics (Moscow) at the Siberian Branch of National Cancer Center (NCC) was established in Tomsk according to the Decree of the USSR General Committee (Presidium) of Academy of Medical Sciences. It was the first medical genetic institution at the east of the country.
The Department was headed by Valeriy Puzyrev (at that time, PhD, associate professor of therapy department of the Novosibirsk Medical Institute, head of the Medical Genetics Laboratory of the Clinical and Experimental Medicine Institute).
Original staff of the Tomsk Department of Medical Genetics was formed by young scientists from Novosibirsk and Frunze (now Bishkek), graduates of the Tomsk Medical Institute and Tomsk State University. The Laboratories of Population Genetics and Cytogenetics were the first laboratories of the Institute.
The Department was officially opened on July 12, and already one month later the first scientific expedition to the Yamal-Nenets Autonomous Area was organized. This expedition started genetic epidemiological research of the Institute. The Tomsk Branch of the National Medical Geneticists Society was established.
The medical genetics office organized on the basis of the regional polyclinic department started to work.
The Department of Medical Genetics was reorganized into an independent State Institution, namely, Scientific Research Institute of Medical Genetics according to the USSR government decree. V. P. Puzyrev became the director of the Institute.
The Laboratory of Clinical Genetics was joined to the Institute. The Laboratory of Planning and Coordination of Scientific Research and also the Laboratory of Automation of Genetic Research were formed.
The Consultative Polyclinic Department of the Institute was opened for medical genetic aid to population.
The first doctor’s thesis was defended by V. P. Puzyrev.
The Laboratory of Molecular Genetics was established. The first prenatal diagnostics of chromosomal pathology in a woman with a balanced Robertson translocation was carried out. During this year the first scientific conference was held and the first collection of research papers was published.
On the initiative of Professor Puzyrev, a course of medical genetics was opened at the neuropathology department of the Tomsk Medical Institute (now Siberian State Medical University).
New technologies of human genome investigation were implemented: recombinant DNA, restriction analysis, DNA probes. The DNA bank of the Institute was started.
The Scientific Research Institute of Medical Genetics was approved as a head institution on problems of medical genetic aid to people of Siberia and Far East. The Institute took part in the National “Human Genome” Program and received two grants.
Regional mapping of the cell cycle CDC2 gene was implemented. Molecular genetic investigations of cardiovascular disease candidate genes were started.
The Scientific Research Institute of Medical Genetics was approved as a head institution of the issue commission "Medical Genetics". 
The Institute was awarded the status of a Federal Center of medical genetic service of the Ministry of Public Health of the Russian Federation.
Investigations on the problem of genomic imprinting and noncanonical inheritance in humans were started. The first prenatal diagnostics with the use of molecular genetic approaches was carried out.
The first genetic clinic at the territory of Siberia and Far East was opened. Its structure included the department of hereditary diseases (hospital), the consultative polyclinic department, and the department of laboratory diagnostics.
A new building of the Institute was opened at the address Naberezhnaya Ushaiki 10. The Interregional Association "Public Health Care of Siberia” approved the Scientific Research Institute of Medical Genetics as an interregional center on medical genetics.
The first hardware and software system for molecular cytogenetic studies (produced by PSI, USA) in Russia was started. Molecular genetic technologies on production of oligonucleotide primers were developed and implemented.
Leading scientists of the Institute joined the members of the Human Genome Organization (HUGO), the European Society of Human Genetics, and the American Society of Human Genetics.
15-th anniversary of the Department of Medical Genetics of the Institute of Medical Genetics in Tomsk and 10-th anniversary of the Scientific Research Institute of Medical Genetics as an independent institution in the structure of the Tomsk Scientific Center.
The first device for automatic DNA analysis with the capillary electrophoresis in Russia was purchased. The high-resolution analysis of microsatellite genetic markers and automatic DNA sequencing was implemented. 
The Institute was accredited as a state institution. An examination board for defense of postgraduate theses on the major 03.00.15 genetics (medical and biological sciences) was opened.
First ten transcervical chorion biopsies with the following cytogenetic analysis were made. A new protocol of molecular cytogenetic analysis of interphasic cellular nuclei of different tissue origin in patients with genomic mutations was proposed.
 A cycle of works on ethnogenomics and study of genetic diversity in population of North Eurasia was started.
The gene for hereditary genodermatosis Keratosis pilaris was mapped.
The first department of medical genetics in Siberia was opened at the Siberian State Medical University (SSMU).
Cooperation agreements with two Great Britain research centers were concluded. The cooperation with the Laboratory of Histology, Embryology, and Cytogenetics of the University of d'Auvergne (Clermont-Ferrand, France) was developed. The treaties were signed with the Tajik Institute of Postgraduate Studies (Dushanbe, Tadzhikistan) and with the Kyrgyz State Medical Academy (Bishkek, Kirgizia).
The Laboratory of Evolutionary Genetics was established.
The grant “Leading Research Schools” of the Russian Foundation for Basic Research was received; the research supervisor was Prof. Puzyrev.
The cooperation with the Estonian Biocenter (Tartu) started. In cooperation with the Max Planck Institute for Physiological and Clinical Research (Bad Nauheim, Germany), gene diagnostics of hypertrophic cardiomyopathy in Russian patients was performed for the first time.
The technique of FISH analysis of abnormalities in chromosome number in interphasic nuclei was implemented into practice of the Genetic Clinic and medical genetic consultations in Siberia and Far East.
The Institute was awarded the International Wenner-Gren Foundation grant.
Professor Puzyrev, the Institute Director, was elected a full member (academician) of the Russian Academy of Medical Sciences.
Two branches of the Institute of Medical Genetics were opened in Ulan-Ude (Buryatiya) and in Vladivostok.
The association agreement with the Swiss National Science Foundation (SNF) on the “Molecular Cytogenetics” grant was signed.
The first diagnostics of chromosome abnormalities of comparative genomic hybridization technology was carried out.
The Institute took an active part in the Federal Program “Research and Development in Priority Fields of Science and Technology” (5 grants) and grants of the Russian Foundation for Basic Research (RFBR) and the Russian Humanitarian Scientific Foundation (6 grants). Investigations of young scientists were supported by five youth grants of the RFBR.
Academician of RAMS V. Puzyrev, the Institute Director, became a research supervisor of two international grants of the European Union. Scientists of the Institute received four grants of the President of the RF for young scientists.
Research in the field of functional genomics was started.
The Institute was approved as a cooperating center of the World Health Organization (WHO).
Professor S. A. Nazarenko, doctor of biological sciences, head of the Laboratory of Cytogenetics, was elected a corresponding member of the Russian Academy of Medical Sciences.
Jointly with the “Zdorov’e” Medical Association, the Institute received a grant of the Tomsk Region Administration for accomplishment of the innovation project “Service Market development in genetic testing of disease susceptibility.”
Large-scale investigation of candidate genes polymorphism of common diseases in the indigenous and newly arrived populations of Siberia, their contribution to susceptibility to various complex disorders was carried out.
The Institute became a member of the GABRIEL International Project.
The level of extracellular DNA of a fetus in blood of pregnant women has been analyzed with the use of quantitative amplification of the fetal SRY locus in real time (Real-Time PCR).
Research projects of the Tomsk Institute of Medical Genetics were supported by 24 research grants and 3 business contracts. The Institute received the grant for development of the material and technical basis, the grant for research expeditions, and 5 grants in support of young scientists.
25 years have passed after establishment of the Department of Medical Genetics in Tomsk and 20 years since the Scientific Research Institute of Medical Genetics, TSC SB RAMS is performed the activity.
The Institute as a Federal Center of medical genetics of the Ministry of Public Health of the RF actively and successfully participates in implementation of the National Health Programs, providing the neonatal screening of hereditary diseases in the Siberian region. 

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