Evgeniy K. GINTER
Director of Science,
Research Center of Medical Genetics (Moscow, Russia)
Member of RAS, DSc (biology)
Areas of expertise:
developmental genetics, medical genetics, population genetics, genetic coun-seling
Special awards and honors:
Honored Scientist of the Russian Federation
Honored Scientist of the Republic of Adygea
Honorary Member of the Bashkir Academy of Sciences of the Republic of Bashkortostan
Science has attracted me since I was a medical student. By the time I graduated I had already had a few publications on the mechanism of phage infections in the “Antibiotics” journal. The Institute I studied at received an offer to send one of the graduates to a postgraduate training course in genetics delivered at the Institute of Medical Radiology, and the Academic Board chose me. During my postgraduate course, I studied developmental genetics of the mouse and then drosophila. I took interest in drosophila developmental genetics when I was working in the Obninsk Laboratory of Radiation Genetics headed by Professor Timofeev-Resovsky.I studied homeotic mutations in drosophilas believing that they occur in those genes that control differentiation. Unfortunately, the Nobel prize for the study of homeotic mutations went to someone else (of course, I am not being serious here). But I am sure that research in developmental genetics will yield some interesting discoveries. One of them has been already made: it is related to obtaining totipotent cells from fibroblasts in which only 4 genes are introduced. Now, the next step is to understand the underlying mechanisms of genetic regulation of differentiation and find out whether this process can be phased. When I was working at the Institute of Medical Genetics of the USSR Academy of Medical Sciences, I started doing some research on hereditary diseases in populations and the genes involved. This work still appeals to me, although I do not go on expeditions any more. To my mind, research in population genetics can give us some understanding of why we, the human species, do not demonstrate worse adaptation in spite of accumulating deleterious mutations. I think that major discoveries in genetics and its branches, especially those that deal with gene functions and gene interaction, are yet to come. Science is team work now, but I do not think that individual researchers have somehow become “obsolete”. In fact, it is hard to say whose contribution is more significant. The most interesting problem of medical genetics is the genetic basis of common diseases. The wave of enthusiasm arising from the idea of associating genes with such diseases has subsided, because no significant results have been obtained, but the question remains open.
- Ginter EK, Kozlova SI, editors. Sovremennoe mediko-geneticheskoe konsul'tirovanie. Moscow: Avtorskaya akademiya; 2016. Russian.
- El’chinova GI, Makaov AH, Revazova YuA, Gavrilina SG, Rusakova AV, Zinchenko RA, Ginter EK. Marriage and Migratory Characteristic of Circassians (Late 20th Century). Russian Journal of Genetics. 2016; 52 (3): 339–41. DOI: 10.1134/S1022795416030066.
- Petrova NV, Kashirskaya NYu, Vasilieva TA, Timkovskaya EE, Voronkova AYu, Shabalova LA, Kondrateva EI, Sherman VD, Kapranov NI, Zinchenko RA, Ginter EK, et al. High proportion of W1282X mutation in CF patients from Karachai-Cherkessia. Journal of Cystic Fibrosis. 2016 Mar 3; 5 (3): e28–e32. DOI: 10.1016/j.jcf.2016.02.003. [Epub ahead of print].
- Andreeva TV, Tyazhelova TV, Rykalina VN, Gusev FE, Goltsov AYu, Zolotareva OI, Aliseichik MP, Borodina ТA, Grigorenko AP, Reshetov DA, Ginter EK, et al. Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. Scientific Reports. 2016 May 24; 6: 26440. DOI: 10.1038/srep26440.
- Ginter EK, Galkina VA, Dadali EL, Khlebnikova OV, Kadyshev VV, Gavrilina SG, et al. [Medico-genetic study of the population of the Republic of Tatarstan. VI. The load of hereditary diseases in eight Districts]. Medical genetics. 2014; 13 (10): 33–40. Russian.
- Amelina EL, Asherova IK, Volkov IK, Gembitskaya TE, Ginter EK, Il'yenkova NA, et al. [The National Consensus Project «Cystic Fibrosis: Definition, Diagnostic Criteria, and Therapy». Section «Inhalation Therapy» (Abridged)]. Current pediatrics. 2014; 13 (6): 89–95. Russian.
- Baranova EE, Sergeev AS, Ivanova LYu, Zhuravleva IV, Izhevskaya VL, Ginter EK. [Integrated estimation of genetic counseling efficiency. Report I. Analysis of medical and social characteristics of consultees]. Medical genetics. 2013; 12 (5): 42–8. Russian.
- Ginter EK, Elchinova GI, Petrin AN, Bessonova LA, Kadishev VV, Havrilina SG, et al. [Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: Population dynamic factors determining the differentiation of the load of hereditary diseases in five districts]. Genetika. 2012; 48 (9): 1105–12. Russian.
- Kostjuk S, Loseva P, Chvartatskaya O, Ershova E, Smirnova T, Malinovskaya E, Roginko O, Kuzmin V, Izhevskaia V, Baranova A, Ginter E, et al. Extracellular GC-rich DNA activates TLR9- and NF-kB-dependent signaling pathways in human adipose-derived mesenchymal stem cells (haMSCs). Expert Opin Biol Ther. 2012 Suppl 1: S99–111.
- Loseva P, Kostyuk S, Malinovskaya E, Clement N, Dechesne CA, Dani C, Smirnova T, Glebova K, Baidakova G, Baranova A, Izhevskaia V, Ginter E, et al. Extracellular DNA oxidation stimulates activation of NRF2 and reduces the production of ROS in human mesenchymal stem cells. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1: S85–97. DOI: 10.1517/14712598.2012.688948. Epub 2012 May 18.