Structure
Laboratory of Genetic Epidemiology

 

TJHF1272

Head of the Laboratory: 

Rena A. Zinchenko– MD, PhD, DSci, Prof., Board Certified in Genetics 
renazinchenko@mail.ru

Detail

 

RESEARCH STAFF

Natalya Yu. Kashirskaya – chief research scientist, MD, DSci, Prof. – researcher in the project cystic fibrosis

Galina I. El’chonova – leading research scientist, DSci

Nika V. Petrova – leading research scientist, DSci

Andrey V. Marakhonov – senior research scientist, PhD – researcher in the field of DNA diagnosis

Varvara A. Galkina – senior research scientist, MD, PhD

Vitaly V. Kadyshev – senior research scientist, MD, PhD – researcher in the ophthalmogenetics

Natalya V. Balinova – senior research scientist, PhD

Tatyana A. Vasilyeva – research scientist – researcher in aniridia

Nina E. Petrina – research scientist

Roman A. Bikanov – PhD student

 

  Contacts:

Moskvorechie St., 1, 115522 Moscow, Russian Federation

Tel.: +7(499) 324-12-24 

renazinchenko@mail.ru

Main publications:


Researches in cystic fibrosis

Natalya Yu. Kashirskaya

Chief research scientist of the Laboratory of Genetic Epidemiology

Doctor of Medical Sciences, Professor, highest category doctor

e-mail: kashirskayanj@mail.ru

kashirskaya

Nika V. Petrova

Leading research scientist of the Laboratory of Genetic Epidemiology

Doctor of Biology

Tel.: +7(499) 320-60-90, e-mail: npetrova63@mail.ru

Researches in DNA diagnostics

Andrey V. Marakhonov

Senior research scientist of the Laboratory of Genetic Epidemiology

PhD (Candidate) of Biology,

Tel.: +7(499) 320-60-90, 

e-mail: marakhonov@gmail.com

andtey

Researches in hereditary ophthalmic diseases (ophthalmogenetics)

Vitaly V. Kadyshev

Senior research scientist of the Laboratory of Genetic Epidemiology

PhD (candidate) of Medical Sciences, highest category doctor

Tel.: +7 (499) 320-60-90, e-mail: vvh.kad@gmail.com

Researches in DNA diagnostics of aniridia

Tatyana A. Vasilyeva

Research scientist of the Laboratory of Genetic Epidemiology

Tel.: +7(499) 320-60-90, 

e-mail:vvh.kad@gmail.com

The Laboratory of Genetic Epidemiology was founded in 1975. As an institution under the Institute of Medical Genetics of the Academy of Medical Sciences of the USSR (1975-1990) it has changed several names: Laboratory of Genetics of Hereditary Disorders and Laboratory of Population Genetics. The laboratory got its current name in 1990, which is the “Laboratory of Genetic Epidemiology” under the Federal Budget Scientific Institution “Scientific Cenetr of Medical Genetics”. Academician, Professor Eugeny K. Ginter was its founder and Head for 30 years (1975-2006). In 2006, his disciple, Doctor of Medical Sciences, Professor Rena A. Zinchenko became the Head of the Laboratory.

SCIENTIFIC PROJECTS

Genogeography and epidemiology of hereditary disorders in the Russian populations: the study of mechanisms of hereditary diseases distribution in different populations and ethnic groups.

Since the foundation, the Laboratory has been focusing on the genogeography and epidemiology of hereditary diseases and conditionally neutral DNA markers, as well as identification of leading factors of population dynamics and genetic structure in formation of the genetic load and the range of monogenic hereditary diseases in Russian populations. The project is carried out on the basis of the material obtained during field studies in a number of regions of the Russian Federation and the neighboring countries. The aim of these studies is to investigate the genetic diversity and describe "genetic portraits" of indigenous peoples of Russia through various genetic systems: genes of hereditary diseases, DNA polymorphisms, methods of population statistics. The study allows to understand the geographical variability of hereditary diseases, to identify the areas of their accumulation, and to identify diseases peculiar to certain ethnic groups. The hereditary load of autosomal dominant, autosomal recessive and X-linked recessive diseases in 13 regions of Russia has been determined. The differentiation between populations with various hierarchical levels has been found based on the hereditary load and the range of hereditary diseases, as well as main population genetic parameters. The range of common and rare hereditary disorders for all the surveyed regions of the European part of Russia has been described. Allele and locus heterogeneity of populations and ethnic groups of the Russian Federation for many hereditary diseases is identified. These studies also create a scientific basis for regional registers of hereditary disorders helping to optimize population-based primary medical genetics healthcare by focusing on regional peculiarities of hereditary abnormalities.

Genetic epidemiological studies are also conducted for individual groups of hereditary diseases, taking into account the target system: epidemiology of hereditary ophthalmopathology, hereditary osteochondrodysplasias, hereditary genodermatoses, and hereditary diseases of the nervous system in various regions of the Russian Federation.

Studies of hereditary ophthalmopathology.

Since 2007, the Laboratory has been actively studying the clinical, molecular, and genetic characteristics of the hereditary eye pathology. Molecular genetic diagnosis of individual forms of hereditary ophthalmopathology using NGS methods is carried out. In-house protocols of clinical, molecular, and genetic diagnosis of eye pathology are developed. On the basis of the results obtained, methodical technologies for individual regions of the Russian Federation are being developed to prevent the development of hereditary ophthalmopathology and to provide early adequate treatment. The following patent was obtained: "Method of differential and confirming molecular-genetic diagnosis of congenital aniridia and WAGR syndrome" (registration number RU 2641254, date: August 18, 2017). Three PhD theses were defended under the scope of the project.

The study of hereditary genodermatoses.

The main differential diagnostic criteria for clinical, laboratory and molecular diagnostics of various types of congenital isolated total hypotrichosis widespread among some ethnic groups in the Volga-Ural region have been developed. The LIPH gene was mapped and a causative mutation was identified. Ongoing research in this field demonstrated a new mutation in the receptor gene P2PY5 and subsequently in the KRT25 gene in patients with a hypotrichosis-like phenotype. Clinical and genetic aspects are studied in patients with moniletrix and mutations in the hHb6 gene as well as with ichthyosis vulgaris and mutations in the FLG gene. Three PhD theses are defended under the scope of the project.

The study of hereditary forms of hearing loss.

Since 2000, the laboratory has developed the basic differential diagnostic criteria for clinical genetic diagnosis of various forms of hereditary hearing loss, both isolated and syndromic. A considerable amount of material has been collected from patients with deafness from various ethnic groups. At the moment, the laboratory performs DNA diagnostics in patients with isolated non-syndromic hearing loss using NGS methods. Five PhD theses are defended under the scope of the project.

Molecular genetics of cystic fibrosis in Russia.

Since 1989, the Laboratory has been actively conducting DNA diagnostics (including prenatal diagnosis) for families with a history cystic fibrosis. Laboratory staff along with the Department of cystic fibrosis is constantly participating in international symposia on cystic fibrosis as well as in the Best Practice and Quality Management control on cystic fibrosis molecular diagnosis organized by the Cystic Fibrosis European Network according to the standards of management of patients with cystic fibrosis. Research staff of the Laboratory includes a member of the European Cystic Fibrosis Society, a member of the Steering Committee of three groups of European experts for neonatal screening of cystic fibrosis and for the European registry of patients with cystic fibrosis. Five PhD theses are defended under the scope of the project.

Complex disorders and the study of polymorphisms of genes encoding enzymes of biotransformation of xenobiotic compounds in Russian populations.

From the very first days of the laboratory's foundation, the researchers have been actively studying the genetics of complex (or multifactorial) diseases: diabetes mellitus, uterine myoma, psoriasis, bronchial asthma, etc. More than 10 PhD theses are defended as part of the project. Together with the Department of cystic fibrosis, the influence of the first phase biotransformation genes of xenobiotics on the course of cystic fibrosis and the response to antibiotic therapy for cystic fibrosis are studied.

Analysis of gene mutations in frequent hereditary diseases in different ethnic groups of Russia.

The range of frequent mutations in some of the most common autosomal recessive diseases in Russia or in certain ethnic groups (Maris, Chuvashs, Udmurts, Bashkirs, Tatars, Karachays, Nogays, Cherkess, Abazins, Ossetians, Russians) is analyzed. The following diseases are analyzed: A) Frequency analysis of 13 common mutations in the CFTR gene; B) Analysis of the frequency of mutations C282Y and H63D in the HFE gene associated with hemochromatosis; C) Analysis of the frequency of exon 4 deletion in the LIPH gene; D) Analysis of the frequency of the 35delG mutation in the GJB2 gene.

The Laboratory of Genetic Epidemiology cooperates closely with the medical and genetic counseling units of the Russian Federation (Rostov and Kirov Regions, Chuvashia, Mari El, Udmurtia, Tatarstan, Karachay-Cherkess Republic, North Ossetia Alania) and Russian research institutes. The laboratory conducted joint scientific research with colleagues from the Czech Republic and the United States.

The staff of the Laboratory of Genetic Epidemiology constantly takes an active part in the Russian and international conferences, provides lectures on contemporary problems of medical and molecular genetics, reviews publications in leading scientific journals, joins the editorial committees of journals, and are the scientific supervisors of PhD students themes carried out on the basis of the laboratory.

Based on the materials of the research of the Laboratory, 70 PhD theses are defended, of which 52 are candidate, and 18 are doctoral.