Personalities

Nadezhda P. Babushkina

Nadezhda P. Babushkina, PhD, researcher of the Laboratory of Population Genetics, Institute of Medical Genetics

Contact details

e-mail: nad.babushkina@medgenetics.ru
Phone: 8 (3822) 51-29-02
fax: 8 (3822) 51-37-44

Brief Biography

In 1996 Babushkina N.P. graduated from the Bachelor's Degree, and in 1998 - the Master's Degree in Biology and Soil Faculty of Tomsk State University, specializing in biology (specialization in cytology and genetics, zoology of vertebrates and ecology). Since January 1998 she has been working at the Research Institute of Medical Genetics: until January 2000 as a laboratory assistant in the laboratory of molecular genetics, since January 2000 - a junior researcher at the same laboratory. In June 2006 she defended the thesis on the topic "Molecular genetic research of demyelinating forms of neuropathy in Charcot-Marie-Tooth", specialty 03.00.15 - genetics. Since January 2007, Babushkina N.P. had the position of researcher in the laboratory of molecular genetics, and in June 2010 - in the laboratory of population genetics for the same position.

Research Interests

The main area of research is the study of the genetic basis of common diseases. Babushkina N.P. is the author of 1 monograph and more than 70 articles, published in leading Russian (Genetics, Medical Genetics, Molecular Medicine, etc.) and foreign journal (Tuberculosis, American Journal of Medical Genetics Part A, Meta Gene, Molecular Cytogenetics, Biomedical Genetics and Genomics, Journal of Molecular Biology Research). She is co-author of "Database of frequencies of alleles and genotypes of polymorphic variants of candidate genes of multifactorial diseases" and a patent "A set of synthetic oligonucleotide probes for determining the genotype of human mitochondrial DNA".

Achievements, awards, and grants

Babushkina N.P. was the investigator of a number of grants: RFBR 00-04-49527-а "Analysis of genomic loci and gene mutations associated with the formation of hereditary motor and sensory neuropathies (Charcot-Marie-Tooth disease)" (2000-2002); RFBR 06-04-49086-a "Study of the prevalence of Spinocerebellar Ataxia I type, taking into account the clinical and genetic features of the disease and genetic and demographic processes" (2006-2008); Agreement with Siberian Chemical Combine "Comprehensive analysis of structural and functional changes in the genome under combined effects of radiation and chemical factors in workers of the Siberian Chemical Combine" (2006-2009); RFBR 07-04-10113-k "Organization and conducting an expedition to the Republic of Sakha (Yakutia) to collect material to study the causes of accumulation of Spinocerebellar Ataxia I type in Yakuts" (2007); RFBR 09-04-00558-a "Contribution of rare variants of immunity genes to the development of tuberculosis in humans" (2009-2011); Federal Program "Coevolution of the human genome and phenome: genetic diversity of populations and phenotypic variability of syntropic traits" (2009-2011); Federal Program "Studying the pleiotropic effects of genes in various functional states of the human body" (2009-2011); Federal Program "Development of oligonucleotide biosensors for determination of genome variants with pharmacogenetic effect in cardiovascular diseases" (2009-2011); Federal Program "Development of systems of genetic markers of the Y chromosome and mitochondrial DNA for identity identification in criminalistics and forensic medicine" (2011); Federal Program "Development of systems of molecular genetics and functional markers for determining individual human radiosensitivity" (2011-2012); RFBR 15-04-05852-a "Genetic factors of comorbidity of multifactorial human diseases" (2015-2017); RSF 14-15-00305 "Postzigotic variability of nuclear and mitochondrial genomes in atherosclerotic lesions of human vessels" (2014-2016); RSF 15-15-00074 "Genetic factors of susceptibility to various forms of tuberculosis infection" (2015-2018).
Babushkina N.P. is a member of the Russian Society of Medical Geneticists and Vavilov Society of Geneticists and Breeders. She were awarded with the Medal for the best scientific work of the young scientist at the International Youth Scientific and Methodical Conference "Problems of Molecular and Cellular Biology", Tomsk (2007); a grant from the Regional Public Foundation for Assistance to Medicine (2008); Honorary Diploma of the Administration of the Tomsk region (2017) and Administration of Tomsk (2017) and Tomsk oblast award in the area of education, science, health and culture (2011).

Main Publications

Patent
Golubenko M.V., Babushkina N.P., Buykin S.V., Glushkova M.E., Kharkov V.N., Stepanov V.A. A set of synthetic oligonucleotide samples to determine the genotype of human mitochondrial DNA // Patent for an invention № 2652895 from 03.05.2018 https://edrid.ru/rid/218.016.4f88.html

Database
Babushkina NP, Kucher A.N., Puzyrev V.P. Database of frequencies of alleles and genotypes of polymorphic variants of candidate genes of multifactorial diseases. Certificate of state registration of database No. 2015621745 dated December 8, 2015.

Monograph
Rudko A.A., Bragina E.Yu., Babushkina N.P., Garaeva A.F., Freidin M.B. Genetic factors for susceptibility to tuberculosis / Publisher SB RAS. 2017. 120 p. https://elibrary.ru/item.asp?id=32376083

1. Kucher A.N., Babushkina N.P., Bragina E.Y., An A.R., Rudko A.A., Freidin M.B., Puzyrev V.P. Variability of the interleukin ligand and receptor gene polymorphisms in four ethnic groups from Siberia // Medicinskaya genetika. 2009. V. 8. № 10. P. 43-52.http://elibrary.ru/item.asp?id=16353098

2. Kucher A.N., Babushkina N.P., Tarasenko N.V., Golubenko M.V., Nazarenko M.S., Koneva L.A., Eremina E.R., Puzyrev V.P. Genetic variability in the genes of tumor necrosis factors and the ir re cep tors in four ethnic groups from Siberia // Medicinskaya genetika. 2010.V. 9. № 6. P. 16-23. http://elibrary.ru/item.asp?id=16378541

3. Kucher A.N., Babushkina N.P., Markova V.V., Polovkova O.G., Zheykova T.V., An A.R., Nazarenko M.S., Botkina O.Y., Bragina E.Y., Golubenko M.V., Eremina E.R., Puzyrev V.P. Genetic variation in the candidate genes for cardiovascular diseases in representatives of four ethnic groups from Siberia // Medicinskaya genetika. V. 9. № 5. P. 24-34. http://elibrary.ru/item.asp?id=16380035

4. Babushkina, N.P., Kucher, A.N. Functional role of VNTR polymorphism of human genes (2011) Russian Journal of Genetics, 47 (6), pp. 637-645. DOI: 10.1134/S1022795411060056https://www.scopus.com/inward/record.uri?eid=2-s2.0-79958796452&doi=10.1134%2fS1022795411060056&partnerID=40&md5=1a4057baea6e4ab07d0366e004338bb0

5. Kucher A.N., Babushkina N.P. Role of microRNA, genes involved in their biogenesis and functioning in the development of human disorders // Medicinskaya genetika. 2011.V. 10. № 1 (103). P. 3-13. http://elibrary.ru/item.asp?id=23026312

6. Puzyrev V.P., Kucher A.N., Babushkina N.P., Golubenko M.V., Bragina E.Y., Nazarenko M.S., Tarasenko N.V., Goncharova I.A., Rudko A.A., Eremina E.R., Freidin M.B., Markova V.V., Botkina O.Y., Polovkova O.G., Zheykova T.V., An A.R Analysis of multilocus genotypes, haplotypes and linkage disequilibrium estimates for the polymorphisms in candidate genes for common diseases in Siberian populations // Medicinskaya genetika. 2011. V. 10. № 2 (104). P. 36-48.http://elibrary.ru/item.asp?id=23026325

7. Babushkina N.P., Buykin S.V., Botkina O.Y., Markova V.V., Zheykova T.V., Golubenko M.V., Bragina E.Y., Nazarenko M.S., Makeeva O.A., Tarasenko N.V., Chepa M.V., Goncharova I.A., Kucher A.N., Puzyrev V.P. Ontogenetic analysis of polymorphism of genes responsible for predisposition to human multifoctorial diseases // Medicinskaya genetika. 2012.V. 11. № 11. P. 21-31. http://elibrary.ru/item.asp?id=23026866

8. Goncharova I.A., Babushkina N.P., Minaycheva L.I., Markova V.V., Kulish E.V., Makeeva O.A., Puzyrev V.P., Salakhov R.R. Prevalence of alleles of polymorphic variants Leu33Pro and Leu66Arg gene ITGB3 among inhabitants of Siberia // Russian Journal of Genetics. 2013. Т. 49. № 8. С. 877-880. DOI: 10.1134/S1022795413070053https://www.scopus.com/inward/record.uri?eid=2-s2.0-84881518504&doi=10.1134%2fS1022795413070053&partnerID=40&md5=2c48f86b75abd2297d09e64231ee4382

9. Babushkina N.P., Kucher A.N., Lebedev I.N., Vasilyev S.A., Timoshevsky V.A., Bragina E.Y., Sukhanova N.N., Torkhova N.B., Yakovleva Y.S. Associations between polymorphic variants of DNA repair and metabolism of xenobiotics genes and chromosome aberration level in human lymphocytes. Medical Genetics. 2013;12(4):19-26. (In Russ.)https://doi.org/10.1234/XXXX-XXXX-2013-4-19-26

10. Babushkina N.P., Kucher A.N., Eremina E.R. Genetic subdivision of the Buryat population. Russian Journal of Genetics. 2014, 50 (3), p. 288-297. PMID: 25438554DOI: 10.1134/S1022795414020021https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898400839&doi=10.1134%2fS1022795414020021&partnerID=40&md5=ab2e4b05cc9ae144ffe02fb39a4e5f20

11. Babushkina N.P., Kucher A.N., Buikin S.V., Golubenko M.V., Makeeva O.A., Bragina E.Yu., Goncharova I.A., Tarasenko N.V., Puzyrev K.V., Shipulin V.M., Puzyrev V.P. Association of polymorphic variants of nuclear and mitochondrial genes with ishemic heart disease // Medicinskaya genetika. – 2014. - № 5. P. 36-46. https://elibrary.ru/item.asp?id=22991767

12. BabushkinaN.P.,KucherA.N.,BuikinS.V.,GolubenkoM.V.,MakeevaO.A.,ShipulinV.M.,PuzyrevV.P.Role of polymorphic variants of the genes of nuclear and mitochondrial genomes in determining ischemic heart disease endophenotypes // Medicinskaya genetika. – 2014. - № 9. P. 28-36. https://elibrary.ru/item.asp?id=23027005 

13. Rudko A.A., Garaeva A.F., Bragina E.Y., Babushkina N.P., Puzyrev V.P., Freidin M.B., Kolokolova O.V., Lipaenkova O.N. Mutations on genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations // Tuberculosis. 2015. Т. 95. № 2. С. 204-207. DOI:http://dx.doi.org/10.1016/j.tube.2015.01.002https://www.scopus.com/inward/record.uri?eid=2-s2.0-84925017834&doi=10.1016%2fj.tube.2015.01.002&partnerID=40&md5=e832cd34d0cd5b276f86be50daf73d40

14. Kucher A.N., Babushkina N.P., Kulish E.V., Makeeva O.A., Bragina E.Y., Goncharova I.A., Puzyrev V.P., Eremina E.R. Characteristic of the genetic variability of four polymorphic variants (rs2069705, rs17880053, rs11126176, and rs804271) in representative samples of indigenous and arrived populations of Siberia. (2015) Russian Journal of Genetics, 51 (8), p. 812-817. DOI: 10.1134/S1022795415070078 PMID: 26601495. DOI: 10.1134/S1022795415070078https://link.springer.com/article/10.1134/S1022795415070078

15. Kucher A.N., Buykin S.V., Babushkina N.P., Puzyrev K.V., Garganeeva A.A., Shipulin V.M., Puzyrev V.P. Analysis of associations of polymorphic gene variants of blood pressure modification and immune response regulatory genes with ischemic heart disease // Molekulyarnaya medicina. 2015. №4. P. 47-54https://molmedjournal.ru/ru/molecmed-2015-04-08

16. Babushkina N.P., Bragina E.Y., Buikin S.V., Saltykova I.V., Nazarenko M.S., Tarasenko N.V., Kulish E.V., Markova V.V., Polovkova O.G., Kucher A.N. Association of polymorphic variants of susceptibility genes common diseases with bronchial asthma. Medical Genetics. 2015;14(5):28-36. (In Russ.)https://doi.org/10.1234/XXXX-XXXX-2015-5-28-36

17. Babushkina N.P., Buykin S.V., Bragina E.Y., Tarasenko N.V., Rudko A.A., Kucher A.N. Analysis of associations of polymorphous variants of genes-candidates of multi-factorial diseases with pulmonary tuberculosis. Tuberculosis and Lung Diseases. 2015;(10):10-19. (In Russ.). https://www.tibl-journal.com/jour/article/view/801/802

18. Lebedev, I.N., Nazarenko, L.P., Skryabin, N.A., Babushkina, N.P., Kashevarova, A.A. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech (2016) American Journal of Medical Genetics, Part A, 170 (8), pp. 2089-2096.https://www.scopus.com/inward/record.uri?eid=2-s2.0-84978152181&doi=10.1002%2fajmg.a.37754&partnerID=40&md5=bc424b43a40ed10e2c820a8bc342e970

19. Garaeva, A.F., Babushkina, N.P., Rudko, A.A., Goncharova, I.A., Bragina, E.Y., Freidin, M.B. Differential genetic background of primary and secondary tuberculosis in Russians (2017) Meta Gene, 11, pp. 178-180.https://www.scopus.com/inward/record.uri?eid=2-s2.0-85005950193&doi=10.1016%2fj.mgene.2016.10.008&partnerID=40&md5=8fb1ca2e6b5d29f4e1277699946692eb

20. Bragina E.Yu., Freidin M.B., Babushkina N.P., Garaeva A.F., Kolokolova O.V., Zhalsanova I.Zh., Puzyrev V.P. The analysis of associations between cytokine network genes and inverse co-morbidity of bronchial asthma and tuberculosis // Biomed. Genet.Genomics. 2016. V.1. № 5. P. 1-4 (doi: 10.15761/BGG.1000122)

21. Babushkina N.P., Goncharova I.A., Golubenko M.V. The developing of technology for diagnostics of genetic variants, that determine the sensitivity to warfarin, using the single nucleotide primer extension method // Medicinskaya genetika. 2017. №11.P. 27-31. https://elibrary.ru/item.asp?id=32290012

22. BabushkinaN.P.,BraginaE.Yu.,GaraevaA.F.,GoncharovaI.A.,RudkoA.A.,TcitrikovD.Yu.,GomboevaD.E.,FreidinM.B.Validation of the Results of Genome-Wide Association Studies of Tuberculosis in Russians of West Siberia Russian Journal of Genetics, 2018. V. 54. № 1, P. 103–109. DOI: 10.1134/S1022795418010027https://www.scopus.com/inward/record.uri?eid=2-s2.0-85041422504&doi=10.1134%2fS1022795418010027&partnerID=40&md5=5ee8d490d962ae562a5dc385f0bde903

23. Babushkina, N.P., Kucher, A.N., Bragina, E.Y., Garaeva, A.F., Goncharova, I.A., Tcitrikov, D.Y., Gomboeva, D.E., Rudko, A.A., Freidin, M.B. Ethnic and Geographical Aspects of the Prevalence of the Polymorphic Variants of Genes Associated with Tuberculosis (2018) Russian Journal of Genetics, 54 (9), pp. 1089-1100. DOI: 10.1134/S102279541809003X. https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053440022&doi=10.1134%2fS102279541809003X&partnerID=40&md5=f29950ffc3fe4ddc7f23926d7b79e44e

24. Kashevarova, A.A., Belyaeva, E.O., Nikonov, A.M., Plotnikova, O.V., Skryabin, N.A., Nikitina, T.V., Vasilyev, S.A., Yakovleva, Y.S., Babushkina, N.P., Tolmacheva, E.N., Lopatkina, M.E., Savchenko, R.R., Nazarenko, L.P., Lebedev, I.N. Compound phenotype in a girl with R(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 (2018) Molecular Cytogenetics, 11 (1)https://www.scopus.com/inward/record.uri?eid=2-s2.0-85046153746&doi=10.1186%2fs13039-018-0375-3&partnerID=40&md5=ac03c8de6e853725d268e8d2c23f2841

25. Khabarova, A.A., Pristyazhnyuk, I.E., Nikitina, T.V., Gayner, T.A., Torkhova, N.B., Skryabin, N.A., Kashevarova, A.A., Babushkina, N.P., Markova, Z.G., Minzhenkova, M.E., Nazarenko, L.P., Shilova, N.V., Shorina, A.R., Lebedev, I.N., Serov, O.L. Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication (2019) Stem Cell Research. Open access 101377. https://doi.org/10.1016/j.scr.2018.101377https://www.scopus.com/inward/record.uri?eid=2-s2.0-85059528442&doi=10.1016%2fj.scr.2018.101377&partnerID=40&md5=b3d73feff76c906847691a66e227245d