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Personalities

Belyaeva Elena Olegovna

Belyaeva Elena Olegovna

PhD, Junior researcher in the Laboratory of Genomics of Orphan Diseases, geneticist in the Consultative and Diagnostic Department of the Medical Genetics Center (Research Institute of Medical Genetics, Tomsk National Research Medical Center).

Contact details

e-mail: elena.belyaeva@medgenetics.ru

Phone: +7 (3822) 53-05-37

Brief Biography

Elena O. Belyaeva graduated from the Medical Faculty of Altai State Medical University in 2012. She graduated from the internship at the Department of Medical Genetics, North-Western Medical University I.I. Mechnikova (St. Petersburg) in 2013. From 2013 to 2014 E.O. Belyaeva worked as a geneticist in a genetic consultation at the Diagnostic Center of Altai Region. She received a certificate for the specialty “Laboratory genetics” at the Siberian State Medical University (Tomsk) in 2015. From 2015 to 2018 she was a PhD student at the Research Institute of Medical Genetics of TNRMC. In 2019 E.O. Belyaeva defended her PhD thesis for the specialty of “Genetics”.

Research Interests

Scientific interests of E.O. Belyaeva are in the field of clinical and molecular cytogenetics and are associated with the study of the clinical manifestations of chromosomal imbalance in patients with undifferentiated forms of intellectual disorders. E.O. Belyaeva is the author and co-author of more than 40 published. The main scientific works are devoted to the description of the clinical effects of Copy Number Variations (CNV) in a group of patients with undifferentiated forms of intellectual disability.

Achievements, awards, and grants

E.O. Belyaeva took part in conducting research:

1. RSF grant “Normalization of karyotype of induced pluripotent stem cells as the basis of chromosomal therapy of human diseases” (project number 16-15-10231).

2. The topic of scientific research in the framework of the fulfillment of the State task of Tomsk NRMC “Optimization of diagnosis of undifferentiated forms of intellectual disorders in childhood using genomic technologies”.

In the course of scientific and practical activities, 8 medical technologies for molecular-cytogenetic diagnostics of chromosomal pathology were developed, which are introduced into the diagnostic practice of the Medical Genetics Center (Research Institute of Medical Genetics, Tomsk NRMC). These technologies are especially in demand for prenatal rapid diagnosis of chromosomal abnormalities in a family with a high level of genetic development. As a result of solving the problems, fundamental and applied research and scientific research proposed by medical technologies provide access to patients before genetic methods and can improve diagnostics, prevention, and genetic counseling for family children suffering from intellectual disorders.

Main Publications

1.                 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 // Molecular Cytogenetics. 2018. 11:26. doi: 10.1186/s13039-018-0375-3

2.                 E.О. Belyaeva, Nazarenko L.P., I.N. Lebedev Clinical and genetic characteristics of patients with idiopathic intellectual disability and chromosomal microduplications. Medical genetics. 2018; 17(10):31-34. (In Russ.)

3.                 E.О. Belyaeva, A.A. Kashevarova, N.A. Skryabin, M.E. Lopatkina, O.A. Salyukova, M.N. Filimonova, O.V. Lezhnina, A.R. Shorina, A.B. Maslennikov, L.P. Nazarenko, I.N. Lebedev Prevalence and spectrum of chromosomal microduplications in patients with disabilities of mental development. Medical genetics. 2017; 16(12):39-42. (In Russ.)

4.                 Kashevarova A.A., Belyaeva E.O., Nikonov A.M., Plotnikova O.V., Gergert I.G., Nikitina T.V., Skryabin N.A., Vasilyev S.A., Lopatkina M.E., Churilova A.V., Tolmacheva E.N., Nazarenko L.P., Lebedev I.N. Interpretation of a patient`s phenotype using a complex of molecular cytogenetic methods. Medical Genetics. 2017; 16(11):46-50. (In Russ.)

5.                 E.O. Belyaeva, A.A. Kashevarova, A.M. Nikonov, O.V. Plotnikova, N.A. Skryabin, L.P. Nazarenko, I.N. Lebedev Significance of molecular karyotyping for diagnosis specification in case of cytogenetically detected chromosomal aberrations. Medical genetics. 2016; 15(7):17-20. (In Russ.)