Laboratory of Genetics of Hereditary Diseases

Head of Laboratory

Kravchenko Sergii

PhD, Senior Researcher
Tel: (380-44) 200-03-84;
Fax: (380-44) 526-07-59;

Education and Scientific Degrees:

1983-1990 - Taras Shevchenko National University of Kyiv (Kyiv), Faculty of Biology, Department of General Genetics

2002 - PhD (molecular genetics)

2007 - academic rank of Senior Researcher (molecular genetics)


1987–1990 – pre-diploma practice in Human Genetics Department, Institute of Molecular Biology and Genetics NAS of Ukraine (IMBG), Kyiv, Ukraine

1990-2002 – Engineer, Senior Engineer, Lead Engineer and Junior Researcher in Human Genetics Department, IMBG, Kyiv, Ukraine

2002-2007 – Research Fellow in Human Genomics Department, IMBG, Kyiv, Ukraine

2007-2018 – Senior Researcher in Human Genomics Department, IMBG, Kyiv, Ukraine

2018-present – Head of laboratory of Genetics of Hereditary Pathologies, Department of Molecular Oncogenetics, , IMBG, Kyiv, Ukraine

International internships:

1997 - Researcher, Katholieke Universiteit Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium

1997 – Researcher, Institute de Génétique et Microbiologie, Orsay, France

2008 – Researcher, Latvian Biomedical Research and Study Centre (BMC), Riga, Latvia


1995 – The Theodosius Dobzhansky Memorial Award of Outstanding Contributions to Medical Genetics and Teratology

2018 – Diploma of the National Academy of Sciences of Ukraine on the occasion of the 100th anniversary of the National Academy of Sciences of Ukraine


Ukrainian Society of Geneticists and Breeders, Ukrainian Society of Medical Genetics, Ukrainian Molecular Biological Society.

Research Areas:

  • study of pathogenic mutations and epigenetic disorders, genetic polymorphisms and chromosomal rearrangements (CNV) in coding and non-coding regions of the genome in patients with severe monogenic human diseases (neuromuscular, neurodegenerative, CNS disorders, metabolism, hormonal development, etc.);
  • study of genetic factors in the pathogenesis of common human complex pathologies (cardiovascular, psycho-neurological, autism spectrum disorders, intellectual disabilities, reproductive function, as well as malignant neoplasms);
  • population genetic studies of human hyper variable loci to analyze the origin of mutations, population structure and biological history;
  • development of DNA-tests for diagnosis of human hereditary pathologies (for patients - differential diagnosis; for relatives of patients from families at high risk of genetic disorders - establishing the status of asymptomatic carriers of pathogenic mutations for planning a pregnancy; for the population - screening of asymptomatic carriers of the most common genetic mutations to determine a risk of having a child with genetic disease).

Research and Major Achievements:

Laboratory of Genetics of Hereditary Pathologies (GHP) was formed on April 2, 2018 after the reorganization of the Department of Human Genomics. The staff of the GHP laboratory has more than 30 years of experience in research of human mutations associated with pathological conditions, including multifactorial and oncological, as well as population studies of human genome variability.

1. Study of molecular genetic bases of monogenic hereditary diseases

We study the determinant genes and genetic modifiers of the clinical phenotype of the most common monogenic diseases (tabl.1, fig.1).

Table 1

List of monogenic diseases, which are studied in the laboratory

DiseaseGenePrevalent mutations Duchenne / Becker myodystrophy (1:3500 males)DMDDeletions, duplications, point mutations Fragile X syndrome (1:1500 males, 1:2500 females)FMR1, FMR2CGG-expansion and FraXA, FraXE, FraXF hypermethilation Hemophilia A (1:6500 males)F8Inversion of the 1st and 22nd introns, point mutations Charcot-Marie-Tus disease type X1 (1:10000)Cx32Point mutations Rett syndrome (1:10000 females)MECP2Deletions, duplications, point mutations Kennedy spino-bulbar amyotrophy (1:40000)ARCAG-expansion Corneal stroma dystrophies (frequency not determined)TGFBIPoint mutations Charcot-Marie-Tus disease type 1А (1:6500)PMP221.5-Mb duplication in 17p11.2 locus, point mutations Cystic fibrosis (1:2200)CFTRPoint mutations, deletions Phenylketonuria (1:8300)PAHPoint mutations, deletions Spinal muscular atrophy (1:6000)SMN1, SMN2, NAIPDeletions, hybrid SMN1 / SMN2 gene, CNV of SMN1, SMN2 genes Adrenogenital syndrome (1:10000)CYP21A2Point mutations, deletions Huntington's chorea (1:25000)HTTCAG-expansion Friedreich's ataxia (1:15000)FXNGAA-expansion Hereditary hemochromatosis (1:1000)HFEPoint mutations Prader-Willi and Angelman syndromes (1:12000 — 15000)SNRPN, UBE3ADeletions, uniparent disomies, incorrect methylation (de novo) Gilbert's syndrome (3-5%)UGT1А1TA-repeats insertion
Fig.1. Genetic modifiers of the clinical phenotype in spinal muscular atrophy (SMA)
Study of genomic rearrangements (deletions, duplications) in patients with intellectual disability

We analyze CNVs in the group of patients with intellectual disabilities (ID) and developmental delay (DD) (Fig. 2-3) in order to determine new candidate genes for ID and DD.

Fig. 2. Spectrum and frequency of CNVs in patients with intellectual disabilities. Distribution by pathogenicity: U - unknown, PB - possibly benign, B - benign, PP - possibly pathogenic, P – pathogenic
Fig. 3. Genomic overlap of deletion in 16p12.2 chromosomal region in 9 patients with ID

We study the genomic rearrangements in 15q11-14 chromosomal region associated with the Prader-Willi (PWS) and Angelman (AS) syndromes (Fig. 4), intellectual disability with epilepsy and autism spectrum disorders (ASD).

Fig. 4. Determination of the spectrum and boundaries of chromosome 15q alterations in patients with PWS and AS using a panel of STR-markers

2. Study of genetic factors in multifactorial pathologies and pharmacogenetic markers

We estimate hereditary predisposition to complex pathologies such as cardiovascular and neurological diseases, thrombosis, bronchial asthma, reproductive disorders (male and female infertility, miscarriages), cancer (Fig. 5).

We are also searching for pharmacogenetic DNA markers to predict the effectiveness of treatment in complex hereditary diseases, immune system disorders and cancer.

Fig. 5. Schematic representation of possible relationships of the genetic factors in Alzheimer's disease

3. Metagenomics research

In close collaboration with the Molecular Oncogenetics Department, the study was launched on the role of gut and oral microbiome disbiosis in neurodegenerative disorders and ASD (fig. 6).

Fig. 6. Alpha diversity of the bacterial gut microbiome (at the family level) in patients with ASD.

4. Population Genetic Study

With the direct involvement of S.A. Kravchenko, molecular genetic studies of microsatellite loci of the human genome were initiated in Ukraine. It formed the basis for population research of genetic structure of regional populations of Ukraine in the framework of national and international projects (Fig. 7).

Рис. 7. Geographic representation of pairwise between-population haplotype sharing. Blue lines connect population pairs showing shared haplotypes forthe RM Y-STRs set. Smaller insets show Europe enlarged (Ballantyne KN et al. Hum Mutat. 2014 Aug;35(8):1021-32)

Ukrainian projects:

  • 2013-2014 STW " Prototyping a test system for DNA analysis of genomic reorganizations and epigenetic disorders that cause common monogenic diseases of the central and peripheral nervous system " №ДП/332-2013, State Information Science, MES
  • 2013-2014 State order " Development of a test system for DNA analysis of pharmacogenetic markers for prognosis, efficacy and complications of treatment of patients with viral hepatitis C" Дог. № ДЗ/401-2013, State Information Science, MES
  • 2016-2020 SRW «Creation of a panel of pharmacogenetic markers for prognosis the course and effectiveness of treatment of socially significant human diseases in patients from Ukraine», РК 0115U002944, target program of NASU
  • 2017-2018 Project " Somatic and germinal mutations associated with immunological alterations in breast and ovarian cancer in patients from Ukraine " №7Б, VCP of the Presidium of NASU
  • 2019–2020 State order «Development of highly sensitive enzyme-linked immunosorbent assay systems for the diagnosis of Epstein-Barr virus», №ДЗ/70-2019, MES

International Grants:

  • 2011–2013 RM Y-STR Consortium, Department of Analytical Molecular Biology, Rotterdam University Medical Center, The Netherlands, "Collaborative project to study fast-mutating STR Y-chromosome loci"
  • 2009–2012 FP7 Project №223692 (CHERISH Consortium) "Improving Diagnoses of Mental Retardation in Children in Central Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics"

Practical activity

In cooperation with specialized health facilities of Ukraine diagnostic зфтуды are created, tested and implemented for:

  • analysis of genetic and epigenetic alterations in monogenic hereditary pathologies;
  • determination of genetic predisposition to complex pathologies;
  • analysis of pharmacogenetic markers in monitoring of reatment effectiveness.

Based on the conducted studies the high informative diagnostics tests for common hereditary human pathologies are created and implemented in state and privat medical centers of Ukraine, more than 30 acts of implementation have been received.

Agreements on scientific and practical cooperation:

  • SI Institute of Pediatrics, Obstetrics and Gynecology of the National Academy of Medical Sciences of Ukraine
  • DF Chebotaryov Institute of Gerontology, National Academy of Medical Sciences of Ukraine
  • RE Kavetsky Institute of Experimental Pathology, Oncology and Radiobiology, National Academy of Sciences of Ukraine

Service contracts (molecular genetic research):

  • LLC “IGR Medical Center”
  • LLC “Academic Medical Center”
  • LLC “Diagnostics PLUS”
  • LLC “Sana-Light”
  • LLC “IVMED” Fertility Medicine
  • LLC "Ukrainian Medical Diagnostic Center"
  • LLC “Genome Medical and Biological Center”

Selected publications:

  1. Loizidou E.M., Kucherenko A., Tatarskyy P., Chernushyn S., Livshyts G., Gulkovskyi R., Vorobiova I., Antipkin Y., Gorodna O., Kaakinen M.A., 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 (Basel). 2021;12(1):64. doi:10.3390/genes12010064.
  2. Kashuba V.I., Hryshchenko N.V., Gerashchenko G.V., Melnichuk N.S., Marchishak T.V.,. Chernushyn S.Yu, Chernenko L.M., Liashko V.K., Tkachuk Z.Yu., Tukalo M.A. Identification and characterization of the SARS-CoV-2 lineage B.1.1.7 upon the new outbreak of the COVID-19 in Ukraine in February 2021. Biopolym. Cell. 2021;37(2):117-124. doi:10.7124/bc.000A52.
  3. Hryshchenko N.V., Gordiyuk V.V., Kravchenko S.A., Arbuzova S.B., Kashuba V.I.. Somatic genomic rearrangements in human leucocyte antigens region in solid ovarian tumors. Biopolym. Cell. 2021;37(2):105-116. doi:10.7124/bc.000A50.
  4. Mishchuk-Reka Ya., Kharkivska Ye., Serga S., Stakhovsky E., Stakhovskyi O., Kononenko O., Koliada O., Ponomarova O., Gulkovskyi R., Ostapchenko L., Demydov S., Kozeretska I. An association of XRCC1 codon 399 polymorphism (RS25487) with bladder and prostate cancer susceptibility in the Ukrainian population. Meta Gene, 2020, Vol. 24, 100696, doi:10.1016/j.mgene.2020.100696.
  5. Govbakh I.O., Tsupykov O.M., Smozhanik E.G., Rubtsov V.V., Tymchyshin M., Kravchenko S.A., Vasylenko D.A. Electron Microscopy Analysis of Sciatic Nerve Fibers in C57BL/6 Transgenic Mice. Neurophysiology 52, 94–100 (2020). doi:10.1007/s11062-020-09857-2.
  6. Гайбонюк І.Є., Кравченко С.А., Макух Г.В., Дац-Опока М.І., Пампуха В.М., Третяк Б.І., Кіселик І.О. Частота асоційованого з синдромом Жильбера низько функціонального алелю 7(та) гена UGT1A1 (rs8175347) в Україні. Вісник проблем біології і медицини – 2020 – Вип. 2 (156). c.91-96 doi:10.29254/2077-4214-2020-2-156-91-96.
  7. Hryshchenko, N.V., Yurchenko, A.A., Karaman, H.S., Livshits L.A. Genetic Modifiers of the Spinal Muscular Atrophy Phenotype. Cytol. Genet. 54, 130–136 (2020). doi:10.3103/S0095452720020073.
  8. Kucherenko A.M., Moroz L.V., Bevz, T.I., Bulavenko V.I., Antypkin Y.G., Berezenko V.S., Dyba M.B., Pampukha V.M., Gorodna, O.V. & Livshits, L.A. (2019). Investigation of rs11536889 + 3725G/C polymorphism of the TLR4 gene in patients with autoimmune and chronic viral hepatitis C. Cytology and Genetics, 53(4), 300-306. doi:10.3103/S0095452719040078.
  9. Gulkovskyi, R., Perebyinis, V., Shkel, O., Rozheluk, N., Kholin, V., Kopchak, O., Bachinskaya, N., Hryshchenko, N., & Kravchenko, S. (2019). Association of the EPHA1 and PARP1 genes polymorphisms with Alzheimer’s Disease. Biological Markers in Fundamental and Clinical Medicine (scientific Journal), 3(1), 46-47. doi:10.29256/v.03.01.2019.escbm28
  10. Yurchenko, A., & Hryshchenko, N. (2019). The impact of skewed X-inactivation in Spinal Muscular Atrophy phenotype modification. Biological Markers in Fundamental and Clinical Medicine (scientific Journal), 3(1), 48-49. doi:10.29256/v.03.01.2019.escbm29.
  11. Chernushyn S. Yu., Kravchenko S.A., Hryshchenko N.V. Differntial diagnosis of deletion and uniparental disomy in 15q11.2-q13 locus. Biological Markers in Fundamental and Clinical Medicine. Biological Markers in Fundamental and Clinical Medicine (scientific Journal), 3(1), 30-31. doi:10.29256/v.03.01.2019.escbm01-89.
  12. Hryshchenko NV, Kirichenkova OP, Gordiyk VV, Kravchenko SA, Kashuba VI. Set of STR-markers for 6p21.31 chromosomal region linkage analysis and CNV study. Biopolymers & Cell. 2019;35(5):333-339. doi:10.7124/bc.000A10.
  13. Chernushyn, S., Gulkovskyi, R. & Livshits, L. Novel Mutation in the MECP2 Gene Identified in a Group of Rett Syndrome Patients from Ukraine. Cytology and Genetics, 2018. 52(4), pp. 294-298. doi:10.3103/S0095452718040023.
  14. S.Yu. Chernushyn, N.V. Hryshchenko. Study of SNRPN genetic and epigenetic mutations in Prader-Willi and Angelman patients. Biopolym. Cell. 2018; 34(5):361-366. doi:10.7124/bc.00098A.
  15. Rosenberg EE, Gerashchenko GV, Hryshchenko NV, Mevs LV, Nekrasov KA, Lytvynenko RA, Vitruk YV, Gryzodub OP, Stakhovsky EA, Kashuba VI. Expression of cancer-associated genes in prostate tumors. Exp Oncol. 2017;39(2):131-137.
  16. Kravchenko, S. A., Nechyporenko, M. V., & Livshits, L. A. Origin of Dystrophin gene deletions in Duchenne and Becker muscular dystrophy patients from ukraine. Cytology and Genetics, 2017. 51(3), 185-191. doi:10.3103/S0095452717030057.
  17. Chernushyn, S., Gulkovskyi, R. & Livshits, L. Novel Mutation in the MECP2 Gene Identified in a Group of Rett Syndrome Patients from Ukraine. Cytol. Genet. 52, 294–298 (2018). doi:10.3103/S0095452718040023.
  18. Pampukha, V., Nechyporenko, M., & Livshyts, L. Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria. Genes and Diseases, 2017. 4(2), 108-110. doi:10.1016/j.gendis.2016.11.004.
  19. Chernushyn S.Y., Livshits L.A. Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia. Cytology and Genetics. 2016, 50(5):183–186. doi:10.3103/S0095452716030026.
  20. 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
  21. Gulkovskyi RV, Chernushyn SY, Kravchenko SA, Livshits LA. ZNF527 gene rs386809049 analysis in population of Ukraine. Cytology and Genetics. 2015;49(4):240-244. doi:10.3103/S0095452715040040.
  22. Kravchenko S.A., Chernushyn S.Yu., Kucherenko A.M., Soloviov O.O., Livshits L.A. Development of MLPA approach for SNP detection in MTHFR, F5 and F2 genes. Biopolymers and Cell. 2015;31(4): 309-315. doi:10.7124/bc.0008F0.
  23. Gulkovskyi RV, Chernushyn SY, Livshits LA. Novel gene PUS3 c.A212G mutation in Ukrainian family with intellectual disability. Biopolymers and Cell. 2015;31(2):123-130. doi:10.7124/bc.0008D6.
  24. Gulkovskyi R.V., Livshits L.A., Sivolob, A.V. Association of the EPHA1 gene polymorphism with idiopathic mild intellectual disability. Biopolymers and Cell. 2015;31(4): 272-278. doi:10.7124/bc.0008EB.
  25. 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. doi:10.7124/bc.0008CA.
  26. 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
  27. Rębała K, Veselinović I, Siváková D, Patskun E, Kravchenko S, Szczerkowska Z. 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. doi:10.1016/j.fsigen.2013.08.011.
  28. Hryshchenko NV, Bychkova GM, Tavokina LV, Brovko AO, Graziano C, Soloviov OO, Hettinger JA, Patsalis PC, Lurie IW, Livshits LA. Unbalanced translocations involving chromosome region 10q25.3q26.3 in patients with intellectual disability and complex phenotypes. Cytogenet Genome Res. 2014;144(3):169-177. doi:10.1159/000370086.
  29. 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. doi:10.15587/2313-8416.2014.27254.
  30. Kucherenko AM, Pampukha VM, Livshits LA. Study of IFNL4 gene ss469415590 variant in Ukrainian population. Biopolym. Cell. 2014;30(5):400-402. doi:10.7124/bc.0008B8.
  31. Ballantyne KN, Ralf A, Aboukhalid R, … Kravchenko S, …Yong RY, Pajnič IZ, Kayser M. Toward male individualization with rapidly mutating y-chromosomal short tandem repeats. Hum Mutat. 2014 Aug;35(8):1021-32. doi:10.1002/humu.22599.
  32. Soloviov O., Hryschenko N., Livshits L. Spinal muscular atrophy carrier frequency in Ukraine. Genetika. 2013 Sep;49(9):1126-8. doi:10.1134/S1022795413080140.
  33. Gulkovskyi, R.V., Chernushyn, S.Y., Kravchenko, S.A., Bychkova, G.M., Livshits, L.A. EPHA1 gene SNPs analysis in population of Ukraine. Biopolym. Cell. 2013; 29(6):506-510.
  34. 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.
  35. Tatarskyy P.F., Chumachenko N.G., Kucherenko A.M., Gulkovskyi R.V., Arabskaya L.P., Smirnova O.A., Tolkach S.I., Antipkin Yu.G., Livshits L.A. Study of possible role of CYP1A1, GSTT1, GSTM1, GSTP1, NAT2 and ADRB2 genes polymorphisms in bronchial asthma development in children. Biopolym. Cell. 2011;27(1):66-73. doi:10.7124/bc.000084.
  36. 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.
  37. 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.
  38. 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.
  39. 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.
  40. Roewer L, Krüger C, Willuweit S, Nagy M, Rodig H, Kokshunova L, Rothämel T, Kravchenko S, Jobling MA, Stoneking M, Nasidze I. Y-chromosomal STR haplotypes in Kalmyk population samples. Forensic Sci Int. 2007;173(2-3):204-209. doi:10.1016/j.forsciint.2006.11.013.
  41. Limborska S.A., Balanovsky O.P., Balanovskaya E.V., Slominsky P.A., Schadrina M.I., Livshits L.A., Kravchenko S.A., Pampuha V.M., Khusnutdinova E.K., Spitsyn V.A. Analysis of CCR5Delta32 geographic distribution and its correlation with some climatic and geographic factors. Hum Hered. 2002;53(1):49-54. doi:10.1159/000048605.
  42. 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.
  43. 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.
  44. Rosser ZH, Zerjal T, Hurles ME, …, Kravchenko SA,… Villems R, Tyler-Smith C, Jobling MA. 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.
  45. Livshits LA, Kravchenko SA. Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation. Gene Geogr. 1996;10(3):219–27.