Alena L. Chukhrova , Leading Researcher, Candidate of medical science
Viktoria V. Zabnenkova , Senior Researcher, Candidate of medical science
Elena A. Bliznetz , Senior Researcher, Candidate of medical science
Olga A. Shchagina, Senior Researcher, Candidate of medical science
Oksana P. Ryzhkova , Senior Researcher, Candidate of medical science
Natalia N. Vasserman , Researcher, Candidate of medical science
Tatiana S. Beskorovainaya, Researcher, Candidate of medical science
Nailya M. Galeeva , Researcher, Candidate of medical science
Anna N. Loginova , Researcher, Candidate of medical science
Evgeniya A. Ivanova, Researcher, Candidate of medical science
Tatiana B. Milovidova , Researcher, Candidate of medical science
Tagui A. Adyan Researcher, Candidate of medical science
Anna A. Stepanova, Researcher, Candidate of medical science
Gulnara M. Bayazutdinova, Researcher
Polina Gundorova, Researcher
Varvara A. Kadnikova, Researcher
Maria V. Bulakh, Researcher
Olga L. Mironovich, Researcher
Igor V. Sukhorukov, Leading Engineer
Natalya V. Komarova, Research assistant
Irina A. Kuznetsova, Research assistant
Nina V. Ryadninskaya , Research assistant
Svetlana I. Broslavskaya , Research assistant
Research Centre for Medical Genetics Tel.: +7 (499) 612-98-46
The Research Institute of Clinical Genetics and Prevention of Hereditary Diseases under All-Union Research Centre for Medical Genetics (AURCMG) of the USSR Academy of Medical Sciences, now called FSBI Research Centre for Medical Genetics, set up the DNA-diagnostics Laboratory in 1991 by order No. 68L dated 17 June 1991. Evgrafov Oleg Vadimovich, Doctor of Biological Sciences, has been an organizer and head of the Laboratory before 1999. Today, the head of the Laboratory is Dr. Polyakov Aleksandr Vladimirovich.
Since its creation and through the present day, the main practical focus of the Laboratory has been the development and improvement of DNA-diagnostics methods of hereditary monogenic diseases according to the on-line or on demand DNA-diagnostics concept, which implies the development of diagnostic protocol for each specific family, even with a very rare hereditary disease. As a part of this implementation, the Laboratory continuously introduces the most modern methods of analysis into practice.The DNA-diagnostics Laboratory Main Objectives are:
• Search for a molecular cause of a hereditary disease
• A confirmatory, prenatal, presymptomatic diagnostics of carriership
• Development and optimization of diagnostic systems
• Assistance the attending physician in interpreting the results of the study
The Laboratory Main Outcomes of the Work:
• Participation in mapping of genetic loci of Friedreich's ataxia, Huntington's chorea.
• Mapping and identification of genes:
• 2000 – CMT2E OMIM 607684 – NEFL,
• 2001 – CMT2F OMIM 606595 – HSPB1,
• 2004 – CMT2A2 OMIM 607684 – MFN2,
• 2007 – Chuvash Osteopetrosis– TCIRG1,
• 2008 год – Yakut methemoglobinemia – DIA1.
• Development of DNA-diagnostics systems for more than 300 monogenic diseases.
• Diagnosis of multifactor diseases.
• The Laboratory has published 822 papers, including 234 articles, during 1991-2015.
• 44 theses were defended, 6 of them were for doctoral and 38 for candidate degree.
Main Focus of the Laboratory Research Today:
• Search for molecular basis of allelic and locus heterogeneity of hereditary diseases.
• Study of locus heterogeneity of various monogenic diseases in Russian patients: mapping and identification the new genes for monogenic diseases; study of the frequencies and spectra of mutations responsible for Mendelian diseases in residents of the Russian Federation various territories.
• Study of allelic heterogeneity of monogenic diseases in Russian patients. Study of carrier state frequencies of common autosomal recessive diseases in residents of the Russian Federation various territories.
• Examining the relationship of phenotypic occurrences of diseases spectrum and structural and functional features of damaged proteins.
• Creation of region specific algorithms for the clinical and molecular genetic diagnosis of hereditary disease.