Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Mo-Fr: 9:00 - 17:00

Head of the Laboratory

Zakharova Ekaterina Yurievna
+7 (499) 324-20-04

Research team

  • Ivanova Olga Nikolaevna
    Senior Researcher
  • Itkis Julia Sergeevna
  • Bychkov Igor Olegovich
    Senior Researcher
  • Gusarova Elena Alexandrovna
    Junior Researcher
  • Baranova Polina Vladimirovna
    Junior Researcher
  • Bazhanova Olga Alexandrovna
    Research Assistant
  • Nekrasov Andrey Yuryevich
    Research Assistant
  • Nagornov Ilya Olegovich
  • Соловьева Ольга Владимировна
  • Александрова Дарья Юрьевна
    Research Assistant
  • Анненкова Элеонора Алексеевна
    Research Assistant
  • Осадчий Андрей Романович
    Junior Researcher
  • Назаренко Яна
    Research Assistant
  • Кистол Денис Викторович
    Junior Researcher

About the Laboratory

The Hereditary Metabolic Diseases Laboratory was set up in the Research Centre for Medical Genetics more than 30 years ago. First, the Laboratory has focused on the development of tests for phenylketonuria detection and selective screening programs for hereditary metabolic diseases (HMD). Gradually, the Laboratory started to use complex biochemical and molecular genetic methods for the accurate diagnosis of hereditary diseases. The Laboratory developed the approaches to the biochemical diagnosis of cellular organelles diseases under the guidance of Professor Ksenia Dmitrievna Krasnopolskaya. Today, it is the only Laboratory in Russia to carry out the postnatal and prenatal diagnostics of the most of these group diseases.

The research area of the Laboratory also includes the search for new biochemical markers for hereditary diseases, and the development of new methods for their effective diagnosis.

The range of biochemical methods used in the Laboratory is extremely wide and includes electrophoresis of urine glycosaminoglycans, transferrin isoelectric focusing, chromatography mass spectrometry, high performance liquid chromatography, analysis of lysosomal and mitochondrial enzymes activity using chromogenic and fluorogenic substrates, and oxography. For the first time, the Laboratory has diagnosed some of HMD forms not previously detected in this country.

Introduction of a tandem mass spectrometry method, which allows detecting about 30 forms of hereditary diseases from the most common HMD groups in microquantities of biological materials (dried blood or plasma spot): aminoacidopathies, organic aciduria and mitochondrial β-oxidation, has become a significant breakthrough in HMD diagnosis.

In recent years, the Laboratory have been actively developing the molecular genetic methods. They created DNA-diagnostics protocols for some diseases of HMD group, which allow to reduce the time of diagnosis and to avoid the use of laborious and invasive biochemical methods. Since 2015, the Laboratory has used next generation sequencing for the simultaneous analysis of multiple genes. Such panels are designed for mitochondrial diseases, hereditary diseases with a primary hepatic lesions, leukodystrophy/leukoencephalopathy.

To date, the applied biochemical and molecular genetic methods allow us to diagnose more than 200 different forms of hereditary metabolic diseases.

The Laboratory is working on the characteristics of mutations spectrum and frequency in hereditary mucopolysaccharidosis, sphingolipidosis, neuronal ceroid lipofuscinosis; develops the algorithms for diagnosing diseases with damage to the white matter of brain, as well as other inherited neurometabolic disorders.

Main publications

The Laboratory team published about 500 articles, chapters of monographs, guidelines and theses publications in domestic and foreign scientific editions. They have repeatedly presented the results of research at genetic conferences, congresses and conventions as oral and poster reports locally and abroad. 

  1. Mikhailova S.V., Zakharova E.Yu., Petrukhin A.S. Neurometabolic diseases in children and adolescents. Diagnosis and treatment approaches. 2017. LitTerra. p.368
  2. Rudenskaya G.E., Zakharova E.Yu. Hereditary neurometabolic diseases of young people and adults. GEOTAR-Media. 2018. P. 392
  3. Zakharova E.Yu., Tsygankova P.G. Mitochondrial inheritance and mitochondrial diseases. // Book. Hereditary Diseases: National Guide. Ed. Bochkov N.P., Ginter E.K., Puzyrev V.P.. M. «GEOTAR-Media». 2012. p. 499-510
  4. Krasnopolskaya K.D. Hereditary metabolic diseases. Reference Manual for Physicians. Antiquarian publication. 2005. P. 364.
  5. Baidakova G.V., Ivanova T.A., Radzhabova G.M., Saydayeva D.Kh., Dzhudinova L.L., Akhlakova A.I., Gamzatova A.I., Melikyan L.P., Bychkov I.O., Mikhailova S.V., Zakharova E.Yu. Features of the mutation spectrum in hereditary tyrosinemia type I in different populations of the Russian Federation." Medical Genetics, 2017. Volume 16. No. 6, pp.43-47.
  6. T.D. Krylova, P.G. Tsygankova, Y.S. Itkis, N.L. Sheremet, T.A. Nevinitsyna, S.V. Mikhaylova, E.Y. Zakharova. High-Resolution Respirometry in Diagnostics of Mitochondrial Diseases Caused by Mitochondrial Complex I Deficiency. Biochem. Moscow Suppl. Ser. B (2018) 12: 43-49.
  7. Zakharova E.Yu., Izhevskaya V.L., Baidakova G.V., Ivanova T.A., Chumakova OV, Kutsev S.I. Mass screening for hereditary diseases: key issues. Medical Genetics, 2017. Vol. 16. No. 10 (184), 3-13.
  8. Semyachkina A.N., Voskoboeva E.Yu., Bukina T.M., Bukina A.M., Nikolaev E.A., Dantsev I.S., Kharabadze M.N., Davydova Yu.I. Clinical and genetic characteristics of mucolipidosis II and III types in children. Russian Bulletin of Perinatology and Pediatrics. 2017; 62 (3): 71-78.
  9. Pchelina S, Emelyanov A, Baydakova G, Andoskin P, Senkevich K, Nikolaev M, Miliukhina I, Yakimovskii A, Timofeeva A, Fedotova E, Abramycheva N, Usenko T, Kulabukhova D, Lavrinova A, Kopytova A, Garaeva L, Nuzhnyi E, Illarioshkin S, Zakharova E. Oligomeric α-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson’s disease. Neuroscience Letters. 2017. 636:70-76;
  10. Krylova T.D., Proshlyakova T.Yu., Baidakova G.V., Itkis Yu.S., Kurkina M.V., Zakharova E.Yu. Biomarkers in the diagnosis and monitoring of treatment of cellular organelles diseases. Medical Genetics. 2016; 15 (7): 3-10
  11. Kurkina M.V., Baidakova G.V., Zakharova E.Yu. Molecular genetic and biochemical characteristics of isolated methylmalonic aciduria in Russian patients. // Medical Genetics. 2016; 15 (9): 17-28.
  12. Mikhailova S.V., Zakharova E.Yu., Tsygankova P.G., Abrukova A.V. Clinical polymorphism of mitochondrial encephalomyopathies due to mutations of the gamma polymerase gene. Russian Journal of Pediatrics and Perinatology. 2012. 4 (2). Pp.54-61
  13. Voskoboeva E.Yu. DNA diagnostics of hereditary mucopolysaccharidosis. Medical Genetics, 2006, Vol. 5, No. 10, pp 33-38.
  14. Proshlyakova T.Yu., Baidakova G.V., Kamenets Ye.A., Mikhailova S.V., Malakhova V.A., Zakharova E.Yu. Oxysterols in differential diagnosis of lysosomal storage diseases. Medical Genetics, 2016. V.15. №12. 37-41.
  15. Sheremet N.L., Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE (2016) Previously unclassified mutation of mtDNA m.3472T>C: evidence of pathogenicity in Leber’s hereditary optic neuropathy. Biochemistry (Moscow) BM16-078.
  16. Klyushnikov S.A., Mikhailov S.V., Degtyarev A.V., Kutsev S. I., Zakharova E.Yu., Novikov P.V., Semiachkina A.N., Voinova V.Yu., Illarioshkin S.N., Proshlyakova T.Yu, Akhadova L.Ya. Clinical guidelines for the diagnosis and treatment of Niemann-Pick disease type C. Medical Genetics. 2015. No. 7. p. 37-51.
  17. Elena Voskoboeva, Alla Semyachkina, Maria Yablonskaya, and Ekaterina Nikolaeva. Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. Mol Genet Metab Rep. 2018 Mar; 14: 47–54.
  18. Kurbatov S.A., Fedotov V.P., Tsygankova P.G., Zakharova E.Yu., Lipovka S.N. Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. The first clinical description in Russia. Neuromuscular Diseases. 2015.2. 44-54
  19. Danilenko N.G., Tsygankova P.G., Sivitskaya L.N., Levdansky O.D., Davydenko O.G. Syndromes of mitochondrial depletion in neurological practice: clinical features and DNA-diagnostics. Neurology and Neurosurgery. Eastern Europe. 2013 (3) 19. .97-111.
  20. Nikolaeva E.A., Tsygankova P.G., Itkis Yu.S., Kozina A.A. The problem of differential diagnosis and treatment of mitochondrial diseases. Russian Journal of Pediatrics and Perinatology. 2012. 4 (2). 36-42.
  21. Golivets L.T., Fedotov V.P., Sozin S.E., Salogub G.N. et al. Fabry’s disease: molecular analysis and clinical genetic comparisons. Medical Genetics. 2012, No. 5 29-35.
  22. Golivets L.T., Kruglova O.V., Gusarova E.A., Tsygankova P.G., Zakharova E.Yu. Selective screening for Fabry’s disease. Medical Genetics. 2014. Vol. 13. No. 12 (150). 29-34.