Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Our mission/goal
Our goal is to provide specialized high-tech medical care for children with chronic diseases, based on the latest data of scientific and clinical potential of the professional community of highly experienced experts in pediatric healthcare.
Laboratory of Molecular Cytogenetics
The Laboratory of Molecular Cytogenetics was founded in 1992. Headed by the Honored Scholar of Russia, Ph.D. in Biology, Professor Svetlana Grigorievna Vorsanova, the laboratory does a wide range of research to identify genomic and chromosomal abnormalities in children with neuro-psychiatric diseases.

"The development and implementation of new laboratory technologies to study mental retardation and autism in children on the basis of fluorescent hybridization techniques of the in situ nucleic acid (FISH), multicolor staining of chromosomes (MCB), metaphase comparative genomic hybridization (HR CGH) and high-resolution serial comparative genomic hybridization (array CGH)».

The most important features of modern clinical and molecular medicine are the widespread use of highly informative laboratory technologies and the rapid implementation in public health of advanced methods based on the success in the analysis of the human genome in normal and hereditary diseases.

The introduction of high-tech in medicine based on genomic analysis have greatly expanded, and in some cases have changed the understanding of the etiology and pathogenesis of many well-known diseases of genetic nature, such as mental retardation and autism. Modern medical diagnostic technologies include a wide arsenal of methods, such as genetic diagnostics. Modern molecular diagnostics in medicine presents a combination of physical, chemical and biochemical methods, the purpose of which is to determine the pathogenic cellular processes occurring at the molecular and/or supramolecular level (the level of DNA molecules).

Modern molecular medicine has no more effective nanotechnology detection of nucleic acids on a single cell level compared to fluorescence hybridization in situ (FISH). This technology is already widely used in the diagnostics of hereditary diseases associated with mental retardation and congenital malformations, cancer and neuro-psychiatric disorders in children and disorders that lead to fetal death.

Furthermore, this technology allows for monitoring of dynamic intracellular and interstitial biochemical processes associated with the life of the organism impaired. Diagnostic methods based on the FISH technology, have high efficiency (e.g., detection resolution of some FISH methods reaches the first DNA monomer of the polymer chain) which, thanks to the continuous modifications, tends to increase resolution. Among the latest features of technology based on FISH are options for injecting exogenous DNA into the cell, followed by the monitoring of its behavior. The latter is a promising direction in the context of the nanotechnology development, which allows for correction of abnormal intracellular processes and, as a consequence, successful treatment of many diseases associated with disruption of the structure and functional activity of the DNA molecules in the cell.

One of the latest modern medical and genetic technologies that are under development and introduction into clinical medicine, is a serial comparative genomic hybridization or molecular karyotyping (genome-wide microarray comparative genomic hybridization - array CGH), based on the use of genetic microarrays. The method allows for a computer analysis of DNA violations at the genome level of a sick child with the help of genome microarray and comparative genomic hybridization. This method identifies micro anomalies of the genome that cannot be detected by other methods, which contributes to effective diagnostics of hereditary diseases.

The aim of the complex innovative program is to develop innovative methods for genetic diagnostics of undifferentiated mental retardation, autism and multiple birth defects, based on the hybridization of in situ nucleic acids and a series of comparative genomic hybridization (array CGH).

The laboratory's contribution to the development of international research cooperation includes creation of a new scientific international journal on cellular and molecular biology titled Molecular Cytogenetic (impact factor 2,14): http://molecularcytogenetics.biomedcentral.com

Diagnostic research of the laboratory include:

• Diagnostics of chromosomal (genomic) anomalies and syndromes,

• Diagnostics of undifferentiated genetically determined forms of mental retardation in children,

• Diagnostics of autism and early childhood schizophrenia and disorders caused by chromosomal (genomic) set,

• Diagnostics of microanomalies of the genome in children with mental retardation and developmental microanomalies,

• Diagnostics of certain monogenic syndromes.

Currently, the laboratory is doing research in the following areas:

• Molecular cytogenetic study of undifferentiated forms of mental retardation with multiple birth defects and/or microanomalies development in children and married couples with reproductive dysfunction by fluorescence in situ hybridization and authentic collection of DNA probes on all human chromosomes and portions thereof,

• Cytogenetic diagnostics of chromosomal disorders such as Down syndrome, Edwards, Patau, Turner, Klinefelter, X trisomy, Y disomy, as well as their mosaic forms, and cases with marker chromosomes,

• Cytogenetic and molecular cytogenetic diagnostics of chromosomal abnormalities in children living in ecologically unfavorable areas (radiation, heavy metals, etc.),

• Diagnostics of special forms of monogenic syndromes, such as Rett syndrome, using molecular cytogenetic markers,

• Molecular cytogenetic study of somatic cells of various tissues (skin fibroblast epithelium, nerve cells, muscle cells, lung, and others),

• Molecular cytogenetic study of cells of spontaneous abortions (miscarriages);

• Molecular cytogenetic study of germ cells (cells of semen and oocytes).

List of laboratory research

• DNA extraction from blood samples;

• Cytogenetic study: karyotype;

• Cytogenetic study of married couples: karyotypes;

• Cytogenetic diagnostics of Rett syndrome and disease carriers;

• Prometaphase analysis of chromosomal abnormalities;

• Molecular cytogenetic studies of peripheral blood lymphocyte cells (fluorescent hybridization in situ - FISH, chrome specific multicolor staining - MCB; comparative genomic hybridization - CGH);

• Molecular cytogenetic studies of marker chromosomes with 2 to 7 DNA probes;

• Molecular cytogenetic study of the shift of X chromosome inactivation in girls and mothers-carriers for X-linked hereditary diseases;

• Molecular cytogenetic study of somatic cells of different tissues (skin fibroblasts, epithelium, cells of brain, muscles, lung and others);

• Molecular cytogenetic study of cells of spontaneous abortions (miscarriages);

• Molecular cytogenetic study of germ cells (semen and oocytes cells);

• Molecular cytogenetic study of subtelomeric deletions and micro translocations with non-syndromic forms of mental retardation;

• Molecular study of complex unbalanced genomic abnormalities by comparative genomic hybridization (CGH).

 

 

 

Svetlana G. Vorsanova, Head of Laboratory, Ph.D., Professor, Email: svorsanova@mail.ru

Yuri B. Yurov, Leading Researcher, Ph.D., Professor

Ivan Yu. Yurov, Senior Researcher, Ph.D., Email: ivan.iourov@gmail.com

Irina A. Demidova, Senior Researcher, Ph.D., Email: demidovaia@yandex.ru

Alexey D. Kolotiy, Senior Researcher, Ph.D.

Victor S. Kravets, Research Fellow, Ph.D.

Oxana S. Kurinnaya, Research Fellow, Email: kurinnaiaos@mail.ru

Maria A. Zelenova, Research Fellow

Marina L. Gordeeva, Research Fellow

Kirill S. Vasin, Research Fellow

Department Phone: 8(495) 484-19-48

All information contained on this site are for informational purposes only. The information provided on the website is not exhaustive.
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