Laboratory of Human Genomics


Ludmyla A. Livshits

Professor, Dr. Sci. (Mol. Genetics)
Phone: (380-44) 200-04-15
Fax: (380-44) 526-07-59;

Education and Degrees:

1969–1975 Graduate Student, Faculty of Biology, Taras Shevchenko National University of Kyiv, Kyiv, Ukraine

1991 Ph.D. (molecular biology), Institute of Molecular Biology and Genetics (IMBG), NASU, Kyiv, Ukraine

2001 Dr.Sci. (molecular genetics), IMBG NASU, Kyiv, Ukraine

2004 Full Professor

Professional Employment:

1973–2002 Researcher-assistant, Post-doc researcher, IMBG NASU, Kyiv, Ukraine

Since 2002 Head of the Department of Human Genomics, IMBG NASU, Kyiv, Ukraine


Since 2006 Editorial Board member of Journal “Biopolymers and Cell” (Ukraine)

Since 2006 Editorial Board member of Journal “Cytology and Genetics” (Ukraine)

Since 2006 Editorial Board member of Journal “Medical Aspects of Women Health” (Ukraine) Since 2011 Editorial Board member “World Journal of Medical Genetics” (China)

Honours, Prizes, Awards:

2006 Gershenson Award of National Academy of Sciences of Ukraine

2011 Diploma of the Verkhovna Rada of Ukraine

Research Area:

Investigation of spectrum, origin, distribution pathogenic effect of mutations and rearrangements in coding and non coding regions of human genome

Development of test systems for hereditary diseases DNA diagnostics

Сurrent Research Activities and Recent Achievements:

Results have been obtained for spectrum, origin and mutation distribution, that cause rare monogenic diseases: cystic fibrosis, phenylketonuria, spinal muscular atrophy, Duchenne and Becker muscular dystrophy, haemophilia A, Charcot–Marie–Tooth type 1A, Huntington’s disease, Martin-Bell syndrome, hemochromatosis, corneal dystrophy, syndromic intellectual disability. Molecular-genetic mechanisms of hereditary diseases pathogenesis are under investigation, as well as the genotype–phenotype association with these disease. Test system prototypes for the DNA diagnostics of following hereditary diseases: cystic fibrosis, phenylketonuria, spinal muscular atrophy, Martin-Bell syndrome, hemochromatosis, Charcot–Marie–Tooth type 1A and adrenogenital syndrome are being developed.

Fig. 1. Novel L558P mutation of the TGFBI gene (а) and new clinical phenotype of hereditary corneal dystrophy were identified (b)

Association of human genome DNA polymorphism with complex disorders such as ischemic stroke and reproductive health disorders (men and women infertility, pregnancy loss) is being studied. The genes encoding detoxication system, blood coagulation, folate cycle, vasoconstriction-dilation proteins, as well as sex hormones receptors and cytokines genes are studied as factors of hereditary susceptibility. Association between allelic variants of FSHR, ESR1, GSTP1 and FMR1 genes and diminished ovarian reserve, AR gene with spermatogenesis disorders was shown. It has been established that certain allelic variants of eNOS, ACE, F2, F7, MTHFR genes in combination with environmental conditions are factors of hereditary susceptibility for ischemic stroke events. Study of human microsatellites loci as markers for genetic population structure and biological history analysis:

Fig. 2. Y-STR-haplotype comparative analysis between European populations

National Grants:

Projects of National Academy of Sciences of Ukraine:

  • 2012–2016 N Project: “The development of pharmacogenetic approaches to assesse the peculiarities of hepatitis C and its treatment effectiveness” (scientific supervisor – Hovorun D. M.)
  • 2011–2015 N Project: “Allelic polymorphism of genes involved in monogenic and complex disorders” (scientific supervisor – Livshits L. A.)
  • 2010–2014 N 29/10 Project: “Creating a prototype of test systems for DNA analysis of genome rearrangements that cause monogenic hereditary diseases and hereditary predisposition to the development of the most socially important human diseases” (scientific supervisor – Livshits L. A.)
  • 2008–2009 N 22/08ДФ 15.04.2008 and N 22/09ДФ 06.04.2009 Bilateral Russian-Ukrainian research Project: “Stroke – a comparative study of molecular genetic risk factors in Russian and Ukranian populations” (scientific supervisor – Livshits L. A.)

International Grants:

  • 2011–2013 RM Y-STR consortium, Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, Netherlands Project: “Rapidly mutating Y-chromosomal STRs collaborative project” (scientific supervisor – Livshits L. A.)
  • 2009–2012 7th Framework Programme (FP7) FP7-HEALTH, SICA, N 223692 Project: “Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/ Statistics”, CHERISH (scientific supervisor – Livshits L. A.)


with Ukrainian organizations:

  • State Institution “Institute of Pediatrics, Obstetrics and Gynecology of NAMS of Ukraine” (Kyiv)
  • State Institution “V. P. Komisarenko Institute of Endocrinology and Metabolism of NAMS of Ukraine” (Kyiv)
  • State Institution “V. P. Filatov Institute of Eye Diseases and Tissue Therapy of NAMS of Ukraine” (Odessa)
  • D. F. Chebotarev State Institute of Gerontology, NAMSU (Kyiv)
  • Institute of Hereditary Pathology, NAMSU (Lviv)
  • Clinic “Isida-IVF” (Kyiv)
  • LTD “Sana-Med” (Kharkiv)
  • Institute of Genetics of Human Reproduction (Kyiv)
  • Charitable Fund “Children with spinal muscular atrophy” (Kharkiv)
  • Crimean Republican Specialized Medical-Genetic Center (Symferopol)
  • Khmelnitsky Regional Perinatal Centre (Khmelnitsky)
  • Donetsk Regional Specialized Center of Medical Genetics and Prenatal Diagnosis (Donetsk)
  • Donetsk Regional Centre of Maternity and Childhood Care (Donetsk)
  • National Pirigov Memorial Medical University (Vinnitsa)

with foreign organizations:

  • Cyprus Institute of Neurology and Genetics (Nicosia, Cyprus)
  • University of Tartu (Tartu, Estonia)
  • Vilnius University (Vilnius, Lithuania)
  • University of Bologna (Bologna, Italy)
  • Catholic University of Leuven, Center for Human Genetics (Leuven, Belgium)
  • European Consortium for the Study of polymorphism DNA Y-chromosome (EU)
  • Latvian Biomedical Research and Study Centre (Riga, Latvia)
  • Erasmus Medical Centrum (Rotterdam, Netherlands)
  • Technical University of Dresden. Institute of Clinical Genetics (Dresden, Germany)
  • Institute of Molecular Genetics, RAS (Moscow, Russia)
  • Federal State Budget Institution “V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology” Ministry of Healthcare and Social Development of RF (Moscow, Russia)
  • Institute of Chemical Biology and Fundamental Medicine, SB RAS (Novosibirsk, Russia)
  • Research Institute of Medical Genetics, SB RAMS (Tomsk, Russia)

Selected publications:

  1. Loizidou, E.M., Kucherenko, A., Tatarskyy, P., ...Prokopenko, I., Livshits, L. Risk of recurrent pregnancy loss in the ukrainian population using a combined effect of genetic variants: A case-control study. Genes, 2021, 12(1), pp. 1–11, 64
  2. Rayevsky, A., Sirokha, D., Samofalova, D., ...Prokopenko, I., Livshits, L. Functional effects in silico prediction for androgen receptor ligand-binding domain novel I836S mutation. Life, 2021, 11(7), 659
  3. Livshits, L.A., Harashchenko, T.A., Umanets, T.R., ...Podolskiy, V.V., Antipkin, Y.G. Relationship between the Prevalence of ACE1 I/D Polymorphism Genotype II and Covid-19 Morbidity, Mortality in Ukraine and in Some Europe Countries. Cytology and Genetics, 2021, 55(5), pp. 427–432
  4. Nøstvik, M., Kateta, S.M., Schönewolf-Greulich, B., ...Møller, R.S., Tümer, Z. Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. Clinical Genetics, 2021, 100(5), pp. 628–633
  5. Sirokha, D., Gorodna, O., Vitrenko, Y., ...Kusz-Zamelczyk, K., Livshits, L. A novel WT1 mutation identified in a 46,XX testicular/ ovotesticular DSD patient results in the retention of intron 9. Biology, 2021, 10(12), 1248
  6. Livshits, L.A., Drozhzhyna, G.I., Kucherenko, A.M., ...Gorodna, O.V., Sereda, K.V. Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy. Oftalmologicheskii Zhurnal, 2020, (2), pp. 3–11
  7. Sirokha, D., Gorodna, O., Lozhko, D., ...Zelinska, N., Livshits, L. Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine. Clinical Case Reports, 2020
  8. Hryshchenko, N.V., Yurchenko, A.A., Karaman, H.S., Livshits, L.A. Genetic Modifiers of the Spinal Muscular Atrophy Phenotype. Cytology and Genetics, 2020, 54(2), pp. 130–136
  9. Ilaslan, E., Markosyan, R., Sproll, P., ...Jaruzelska, J., Kusz‐zamelczyk, K. The fkbp4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome. International Journal of Molecular Sciences, 2020, 21(21), pp. 1–12, 8403
  10. Kucherenko, A.M., Moroz, L.V., Bevz, T.I., ...Gorodna, O.V., Livshits, L.A. Investigation of rs11536889 + 3725G/C Polymorphism of the TLR4 Gene in Patients with Autoimmune and Chronic Viral Hepatitis C. Cytology and Genetics. - 2019. 53(4), pp.300-306
  11. Livshits, L.A., Drozhzhyna, G.I., Kucherenko, A.M., ...Gorodna, O.V., Sereda, K.V. Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy. Oftalmologicheskii Zhurnal. - 2020, (2), pp.3-11
  12. Hryshchenko, N.V., Yurchenko, A.A., Karaman, H.S., Livshits, L.A. Genetic Modifiers of the Spinal Muscular Atrophy Phenotype. Cytology and Genetics. - 2020, 54(2), pp.130-136
  13. S. Chernushyn, R. Gulkovskyi, L. Livshits. Novel mutation in the MECP2 gene identified in a group of Rett syndrome patients from Ukraine. Cytology and Genetics, 2018, Vol. 52, No. 4, pp. 294–298
  14. Volodymyr Pampukha, Maryna Nechyporenko, Ludmila Livshyts. Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria. Genes and Diseases 2017, V.4(Is.2), P.108-110
  15. Kravchenko S.A., Nechyporenko M.V., Livshits L.A. The origin of dystrophin gene deletions among Duchenne and Becker muscular dystrophy patients from Ukraine. Cytology and Genetics, 2017. - V. 51. № 3:46-53
  16. S. Yu. Chernushyn, L. A. Livshits. Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia. Cytology and Genetics. 2016, 50 (3):183-186.
  17. A. M. Kucherenko, V. M. Pampukha, K. Yu. Romanchuk, S. Yu. Chernushyn, I. A. Bobrova, L. V. Moroz, L. A. Livshits. IFNL4 polymorphism as a predictor of chronic hepatitis C treatment efficiency in Ukrainian patients. Cytology and Genetics. 2016, 50(5): 330–333.
  18. Gulkovskyi RV, Chernushyn SY, Kravchenko SA, Livshits LA. ZNF527 gene rs386809049 analysis in population of Ukraine. Cytology and Genetics. 2015;49(4):240-244.
  19. Gulkovskyi RV, Chernushyn SY, Livshits LA. Novelgene PUS3 c.A212G mutation in Ukrainian family with intellectual disability. Biopolymers and Cell. 2015;31(2):123-130.
  20. Gulkovskyi RV, Volkova LS, Livshits LA. Association of the leukemia in hibitory factor gene polymorphism rs929271 with idiopathic mild in tell ectual disability. Biopolymers and Cell. 2015;31(1):34-37.
  21. Rudenko E, Kondratov O, Gerashchenko G, Lapska Y, Kravchenko S, Koliada O, Vozianov S, Zgonnyk Y, Kashuba V. Aberrant expression of selenium-containing glutathion eperoxidases in clear cell renal cell carcinomas. Experimental Oncology. 2015;37(2):105-110.
  22. Rębała K, Veselinović I, Siváková D, et al. Northern Slavs from Serbia do not show a founder effect at autosomal and Y-chromosomal STRs and retain their paternal genetic heritage. Forensic Science International: Genetics. 2014;8(1):126-131.
  23. Kaye N. Ballantyne et al. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats. Human Mutation: Variation, Informatics, and Disease. 2014;35(8):1021–1032.
  24. Kucherenko A, Gulkovskyi R, Khazhylenko K, et al. Recurrent pregnancy loss association with allelic variants of IL8 and IL10 genes. ScienceRise. 2014;2(2):7-10.
  25. Kucherenko AM, Shulzhenko DV, Kuznetsova SM, et al. Association of IL8 and IL10 gene allelic variants with ischemic stroke risk and prognosis. Biopolym. Cell. 2014;30(3):234-238.
  26. Kucherenko AM, Pampukha VM, Livshits LA. Study of IFNL4 gene ss469415590 variant in Ukrainian population. Biopolym. Cell. 2014;30(5):400-402.
  27. Livshits L. A., Kravchenko S. A., Nechyporenko M. V., et al Human genome mutation and rearrangement studies – the way to investigate monogenic and complex disease pathogenesis Biopolym. Cell. 2013; 29(4):330-338 doi: 10.7124/bc.000827
  28. Livshyts G, Podlesnaja S, Kravchenko S, Livshits L. Association of PvuII polymorphism in ESR1 gene with impaired ovarian reserve in patients from Ukraine. Reprod Biol. 2013; 13(1): 96–9. doi:10.1016/j.repbio.2013.01.178
  29. Hryshchenko NV, Bychkova GM, Livshyts GB, et al. Clinical Genealogical and Molecular Genetic Study of Patients with Mental Retardation. Cytol. Genet. 2012; 46(1):47–53. doi:10.3103/S0095452712010045
  30. Livshyts G, Podlesnaja S, Kravchenko S, Sudoma I, Livshits L. A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine. J Assist Reprod Genet. 2009; 26(1):29–34. doi: 10.1007/s10815-008-9279-1
  31. Pampukha VM, Kravchenko SA, Tereshchenko FA, Livshits LA, Drozhyna GI. Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy. Ophthalmologica. 2009; 223(3):207–14. doi:10.1159/000202645
  32. Tighe O, Dunican D, O'Neill C, Genetic diversity within the R408W phenylketonuria mutation lineages in Europe. Hum Mutat. 2003; 21(4):387–93. doi:10.1002/humu.10195
  33. Kravchenko SA, Slominskii PA, Bets LA, et al. Polymorphism of STR loci of the Y chromosome in three populations of eastern slavs from Belarus, Russia and Ukraine. Rus. J. Genetics. 2002; 38(1):80–6. doi: 10.1023/A:1013724013653
  34. Livshits LA, Malyarchuk SG, Kravchenko SA, et al. Children of chernobyl cleanup workers do not show elevated rates of mutations in minisatellite alleles. Radiat Res. 2001; 155(1 Pt 1):74–80. doi: 10.1667/0033-7587(2001)155[0074:COCCWD]2.0.CO;2
  35. Rosser ZH, Zerjal T, Hurles ME, et al. Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet. 2000; 67(6):1526–43. doi: 10.1086/316890
  36. Dork T, Macek M Jr, Mekus F, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet. 2000; 106(3):259–68. doi: 10.1007/s004390000246
  37. Livshits LA, Kravchenko SA. Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation. Gene Geogr. 1996;10(3):219–27.