Research Centre of Medical Genetics

Research Centre of Medical Genetics (RCMG) of the Russian Academy of Medical Sciences (RAMS) was founded on the basis of Institute of Medical Genetics of the USSR Academy of Medical Sciences (AMS), which was founded in its turn as a response to activity of earlier generation of Russian human geneticists: E.F. Davidenkova, V.P. Efroimson, N.N. Medvedev, S.A. Neifakh, E.E. Pogosyants, A.A. Prokofyeva-Belgovskaya and other survivors of “Lysenkoism” in the USSR. Being disciples of the best genetic centers in the country (N.I. Vavilov, S.N. Davidenkoff, N.K. Koltsoff, Yu.A. Philipchenko, A.S. Serebrovsky and others) named geneticists by early 1960thsheaded genetic departments in medical research institutes. Due to their active position, formerly suppressed in “Lysenko-Lepeshinskaya” period medical genetic studies in the USSR started to revive. In 1965 a scientific council on the problems of “General and Medical Genetics” (Сhair – V.D. Timakov) was organized in the USSR AMS and on March 30, 1967 an Order (No. 261) was issued by the USSR Ministry of Health to organize medical genetic departments in some out-patient hospitals in Moscow and Leningrad.

On April 10, 1968 at the Session of the USSR AMS Presidium organization of Institute of Medical Genetics was suggested by the Secretary of the Department for Medical and Biological sciences Academician N.A. Fedorov and respective decision was taken to reorganize former Institute of Experimental Biology of the USSR Academy of Medical Scienses into Institute of Medical Genetics (IMG) of the Academy. Re-organization work was offered to N.P. Bochkov, then engaged in human radiation genetic studies in respective Department of the Institute of Medical Radiology in Obninsk (head of the Department – Prof. N.V. Timofeev-Resovsky). On October 1, 1969 the IMG was officially open and N.P. Bochkov was nominated its first Director. Presidium of AMS fully supported the development of new Institute: in the next two years the Institute moved to new roomy building new equipment was bought and extra money for salary was given.

The most important role in human genetics revival in the country was played by support to new Institute given by survivors of elder generations (S.I. Alikhanyan, B.L. Astaurov, D.K. Belyaev, M.E. Lobashev, R.L. Berg, P.F. Rokitsky, B.N. Sidorov, N.N. Sokolov, N.V. Timofeev-Resovsky, R.B. Khesin, N.I. Shapiro and others). Moscow geneticists (V.P. Efroimson, A.A. Malinovsky, N.N. Medvedev, E.E. Pogosyants and A.A. Prokofyeva-Belgovskaya) were invited members of the Academic Council of the Institute and supervised respective branches of human and medical genetics.

Since the very beginning research program of the Institute included studies of genetic material and genetic processes in norm and disease in man and in model objects at the main levels of structural and functional organization of living systems (molecular, cellular, developmental, populational) with the aims to improve the methods of diagnosis, cure and prevention of inherited and inborn diseases in man. Directions and problems of the Institute research program changed in accordance with the global medical genetics and the problems set by National health programs. For the first two decades of the Institute functioning the main research problems included genetics of inborn and hereditary diseases, human chromosomes in norm and disease, biochemical and molecular genetics of hereditary diseases, genetic patterns of population processes, mutagenesis in man, molecular biology of human chromatin, immunogenetics and medical genetic service.

Urgent research problems, good equipment, wide inclusion of young postgraduates and well known geneticists made the Institute a Worldly known centre of genetics. This may be illustrated by the following. In 1976-78 IMG was enlisted as co-organizer of the XIV World Congress of Genetics in Moscow. The Institute was visited by worldly known geneticists (V. MacKusick, J. Lejeun, F. Vogel, A. Motulsky, S. Auerbach, F. Sobels, J. Neel, W. Shell, C. Carter and many others). Institute widely co-operated with foreign colleagues in USA, France, Czechoslovakia, Germany and Bulgaria. For many years the Institute graduates headed WHO Programs of Human Genetics (A. Bulanov, A. Kuliev and V. Boulyjenkov). For the studies of human chromosomes in norm and disease the Institute cytogeneticists N.P. Bochkov, A.F. Zakharov, A.A. Prokofyeva-Belgovskaya, jointly with E.F. Davidenkova and E.E. Pogosyants got the USSR State award for 1983 in science and technique.

Already in 1978 the new Institute summarized its proceedings shown at the World Congress of Genetics and edited a book “Progress in Medical Genetics” in which 8 of 14 authors were the Institute research workers. Collected articles of the Institute were edited also in the years to follow. These were “Theoretical Problems of Medical Genetics” (Moscow, 1979), “Diagnosis of Hereditary Diseases” (Moscow, 1986), “Prevention of Hereditary Diseases” (Moscow, 1987) and others. By papers published in these books one can follow the research activity of the Institute. Except for articles published in these books articles and lectures were published in Russia and abroad.

For the first two decades IMG headed by academician of medicine N.P. Bochkov and engaged in well selected strategy became a worldly known scientific Centre.

Research Centre of Medical Genetics and Main Directions of its Activity

The largest changes in structure and function of the Institute followed its re-organization in August 1989 into Federal Research Centre of Medical Genetics (FRCMG) including two institutes: Institute of Human Genetics and Institute of Clinical Genetics.

In 1990-91 within the latter two units were formed: Laboratory of DNA Diagnosis and Research and Clinical CF Department with respective research problems. In 1989–2004 the Centre was headed by RAMS Academician V.I. Ivanov. Perhaps this was one of the most dramatic periods in Russian science, including medical genetics. Economic instability in the country lead to sharp drop in science financing including salary. The staff started to leave the Centre and abilities for productive work sharply decreased. Large merit of V.I. Ivanov’s directorship was preservation of main research staff.

About the end of 1980ths two large Federal programs were started in the USSR, namely “High priority trends in genetics” and “Human genome”. At that time the FRCMG was transformed into RCMG of RAMS (June, 1992).In both programs RCMG was named as principal co-executor of respective projects whose specialists acted as the heads of sections. It is to be mentioned participation in these programs as well as getting a number of Russian (Russian Foundation of Fundamental Research and others) and foreign grants allowed MGRC to survive hard decade of Gorbachev’s “perestroika” and Eltsin’s reforms in Russia.

Since 2004 MGRS is headed by Academician of RAMS E.K. Ginter.

The last decades of the 20th century in world science and especially in Genetics was the period of marked “molecularization” and “computerization” of research methods. In spite of financial difficulties the Centre could not keep out of those global trends. Marked changes came into both its structure and research program.

Now RCMG of RAMS includes 13 research Labs: molecular biology including biotechnology group, that of metabolic hereditary diseases, DNA diagnostics, molecular genetics of complex inherited diseases, genetic epidemiology, ecological genetics, genetics of reproduction disorders, epigenetics, prenatal diagnosis, mutagenesis, genetics of stem cells, general cytogenetics, human population genetics. Except for that, the Centre structure includes two clinical research units: Research and Counseling Department including out-patient section and CF Department the latter is also a RF Federal Centre for Treatment and Rehabilitation of CF patients.

RCMG of RAMS is also a Federal Centre of Russian Health Service for Medical Genetics and WHO Centre for Prevention of Hereditary Diseases

Research Problems of the Centre are formulated within the limits of high priority themes adopted by Medico-Biological Division of RAMS: "Studies of immunological, genetical, molecular, biochemical, physiological and morphological grounds of Life in Norm and Disease in order to prevent the Diseases to Diagnose and Treat them and to Restore the Functions of the Organism” and also “High Priority Trends in Science, Technology and Techniques in Russian Federation” (Life Systems Technologies) and “Crucial Technologies in RF” (gene diagnosis, gene treatment).

Вy tradition RCMG keeps to studies of genetic material and genetic processes in man in norm and pathology at the main levels of structural and functional organization of living systems from molecular to populational one, as well as the tradition of practical orientation of the themes. The studied problems and main results are given in some details later.

Brief account of history makes it not only formal but to some extent detrimental. The history of RCMG of RAMS is the history of its staff and any member is a unique person. For 40 years history of the Centre its total personnel exceeded a thousand research workers, new units were founded and closed. All of them left their trace in the Centre’s evolution. Short time ago the Laboratory of Developmental Genetics was closed since its foundation in 1972 it was headed by AMS member Prof. V.I. Ivanov. It was in this Lab that bioinformatics technologies for the mechanisms of human development and malformation were first elaborated. In this Lab two computerized diagnostic Systems SYNGEN and CHRODIS which are successfully applied in practical work of a number of Genetic Counseling units in Russia. Large input into the Center’s results and its current work was made by corresponding member of the USSR AMS Prof. A.F. Zakharov (structure and functions of human chromosomes); corresponding member of the USSR AMS Prof. A.A. Prokofyeva-Belgovskaya (structure and function of heterochromatin); MD. Prof. K.D. Krasnopolskaya (metabolic hereditary diseases; MD. Prof. A.A. Revazov (human population genetics); MD. Prof. S.I. Kozlova (medical genetic counseling); MD. Prof. R.F. Garkavtseva (population geography of hemoglobinopathies); MD. РhD. K.N. Grinberg (first in the USSR bank of embryonic and postnatal human fibroblasts bearing genetic and chromosome mutations); Prof. PhD. P.I. Tseitlin, Prof. PhD. D.M. Spitkovsky and many other former research fellows of the Centre.

Teaching Genetics

Since the very beginning research staff of the USSR AMS Institute of Medical Genetics paid great attention to spreading medical-genetic knowledge in medical circles (young scientists, physicians, university teachers, undergraduates, etc.). For this aim evening lectures were organized in Polytechnical Museum, Conferences and Symposia were carried out, the results were exposed to wide public. In 1972 the 1st School for young scientists was held in Kazan to which well known geneticists and clinicians were invited as lecturers. This and the following schools were held in different places (Rostov Veliky, Zvenigorod, Moscow) and practically all the survivors of elder generations of human and medical geneticists participated at those schools as lecturers. These schools had quite informal character and younger geneticists had constant contacts with elder ones. The schools promoted the spreading of genetic knowledge and some new genetic units were founded in clinical schools (AMS Institute of Psychiatry, AMS Institute of Neurology and other institutes in and outside of Moscow).

Very helpful for development of Medical Genetics in Russia was the work of Research Council for Medical Genetics of the USSR AMS. The functions of the Head Organization in the field were placed at the Institute, which coordinated the research plans, gave expert examination of obtained data at the regular sessions which were a good school for the participants.

In 1970ths the IMG was in fact the only Institute in the USSR for postgraduate training of medical geneticists. Every year half a dozen of young physicians from many republics of the USSR fulfilled two to three years’ training program and got either PhD or MD and professional qualification to work as medical genetic counselors or research workers. Beyond training at the working places in the Centre’s Labs a constant lecture course was organized by the Centre’s research and clinical staff. For some years practical genetic course functioned using Drosophila mutants to visualize the lows of inheritance and variation. In 1969 – 2009 years above 380 internal and external postgraduates got genetic training in IMG.

Since 1973 an academic council conferring the Degrees of Candidates and Doctors of Medical and Biological Sciences in Genetics was established at the Institute. For some years it was the only Council in Russia licensed to confirm genetic theses in medicine. During 40 years about 350 genetic theses in Medical Genetics to confirm Candidate of medical sciences Degree and 75 theses the same for Doctor of Medical sciences were affirmed of which 208 and 36 competitors were from IMG and its successor’s staff.

Very important in genetic education of young physicians was teaching Genetics to graduate and postgraduate students by leading specialists of the Centre in Moscow Medical schools. Prof. N.P. Bochkov headed the Chair of Medical Genetics of the I.M. Sechenov Moscow Medical Academy for more than 20 years; Prof. V.I. Ivanov headed the Chair of Genetics of the Russian State Medical University for a decade and a half; Prof. E.K. Ginter is the Head of the Chair of Medical Academy of Postgraduate Education.

The role of medical geneticists in improvement of the genetic service in Russia

Institute of Medical Genetics took most active part in formation of the net of medical genetic units in Russian Health Service. It concerns, first of all, the strategy of genetic counseling, methods of work of the counselors, of laboratory staff, the required personnel qualification and so on.

On November 6, 1969 Order №813 of the USSR Minister of Health Prof. B.V. Petrovsky “On organization of medical genetic counseling units in regional hospitals” was issued specifying organization of 20 such units by one in each of the republics except for Ukraine and Russian Federation, which had to organize 2 and 5 units, respectively. In that Order temporary roles were described for medical genetic service organization, for staff requirement and measures of personnel training. Active role in making those documents played N.P. Bochkov already appointed director of the new Institute of Medical Genetics of the USSR Academy of Medical Sciences. The Order also provided for the USSR N.A. Semashko Institute of Social Hygiene jointly with IMG to formulate suggestions for improvement of genetic service functioning.

In 1973 in IMG genetic counseling unit was organized to help families of higher risk of genetic pathology which elaborated the documents specifying the functions of counseling units.

In 1979 Order №1122 was elaborated specifying “The state of and further measures for improvement the Federal Centre for hereditary diseases prevention, diagnosis and treatment of hereditary diseases” and it was the start of medical genetic service in USSR. In that Order the IMG was specified as the head unit of the service. IMG responded to these functions very responsibly not only specifying the strategy but also the tactics to improve genetic service in the country to help the families with hereditary diseases, and to consult the staff of genetic counseling units all over the country.

In recent years the Institute played important role in elaboration of the Order №787 (1985) “On the measures for further development of medical genetic service”, the resolution of the Ministry of Health Board “On additional measures of improvement the genetic help to people and now valid RF Ministry of Health order №316 (1993) “On further development of medical genetic service of Russian Federation Health Ministry.

Realization of these documents led to formation of three level system of medical genetic service in the Country. First level is presented by 80 medical genetic offices located in most regional centers of RF and 10 of which function as interregional units, which represent the second level. And the 3rd level comprises seven Federal Centres, one of which is the AMS Research Centre of Medical Genetics.