CV

ELENA V. ZAKLYAZMINSKAYA

First Name: Elena
Last Name: Zaklyazminskaya
Date of birth: 7/08/1971

Personal Description: medical geneticist,molecular geneticist, M. D., Ph.D.

Master degree (MD):1997

Primary Specialty: M. D.,Medical Biophysics (1997),

Name of School: Russian State Medical University, Moscow, Russia

Secondary Specialty:

  1. MD, Laboratory Geneticist (1997),Laboratory Geneticist (2002, confirmation of specialization)

Name of School: Russian Medical Academy of Postgraduate Study, Moscow, Russia

  1. MD, Medical Geneticist (1998),Medical Geneticist (2003, confirmation of specialization),

Name of School: Russian Medical Academy of Postgraduate Study, Moscow, Russia

Scientific degrees:

M. D., PhD: 2002, in the fields of Medical Genetics, and Cardiology. Thesis “Molecular genetic analysis of Long QT Syndrome (LQTS) in Russia”

Name of School: Russian Medical Academy of Postgraduate Study, Moscow, Russia

Doctor of Medical Science: 2007, in the fields of Medical Genetics, and Cardiology. Thesis “Genetic bases of cardiac arrhythmias”

Name of School: Russian Research Center for Medical Genetics, Moscow, Russia

Depth of interest: human clinical and molecular genetics, inherited arrhythmia’s, inherited cardiomyopathy , inherited cancer, genotype-phenotype correlation, structure of the mortality, genetic counselling,genetic bases of sudden death, mutation detection, cellular electrophysiology, cardiac sudden death, molecular pathogenesis of inherited diseases, pre-mRNA processing.

Languages:Russian, English, French (average)

E-Mail:

Phone(mobile): +7 9036119554

Present job:

Job Title: Head of Department of Metabolic and Inherited Diseases

Name of Employer: Federal Clinical and Research Center for Children Hematology, Oncology and Immunology, Moscow, Russia

Current jobs

1. Job Title: visiting scientist in Lausanne University

Name of Employer: European Society of Cardiology

(Research Grant from ESC 2007 in University of Lausanne, Department of Pharmacology and Toxicology, Hugues Abriel group), Lausanne, Switzerland

Start Date 1/09/2007

End Date 31/08/2008

2. Job Title: Senior Researcher scientistinLaboratory of DNA-Diagnostics

Name of Employer:Russian Research Center for Medical Genetics, Moscow, Russia

Start Date 2003

End Date 2007

3. Job Title: Associate Professor in Department of Medical Genetic

Name of Employer: Russian Medical Academy of Postgraduate Study, Moscow, Russia

Start Date 2005

End Date 2007

Previous Jobs

1. Job Title: Assistant Professor in Department of Medical Genetic

Name of Employer: Russian Medical Academy of Postgraduate Study, Moscow, Russia

Start Date01/09/1997

End Date 2005

Skill Sets:

Clinical skills and experience:

Genetic counselling of patients with inherited arrhythmias (mainly LQTS, SQTS, Idiopathic ventricular fibrillation, Brugada Syndrome), idiopathic cardiomyopathies, repeated congenital heart diseases, families with stillbirth and sudden death events, inherited cancers, common diseases, inherited nephropathies, pedigree analysis, phenotype analysis, genotype-phenotype correlations, using of diagnostic software “POSSUM” and “Oxford Medical Database”, on-line resources OMIM and “Orphanet ” Rare Diseases Databases, organization and coordination of collaboration between Genetic department and profile Cardiac and Cardio-Surgery Departments.

Molecular research and diagnostics:

DNA and RNA extraction from different biological samples, primer design, PCR, RT-PCR, SSCP-analysis,hetero-duplex analysis, RFLP, ARMS, for searching mutations in KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, SCN4B.

DNA diagnostics strategiesdevelopment for families with LQTS, SQTS, sick sinus syndrome, idiopathic ventricular fibrillation, idiopathic dilated cardiomyopathies.

Direct mutagenesis, plasmid preparation and amplifying, bacterial transformation, cloning, ligation, analysis of sequencing results, using of bio-informatics tools for molecular genetic data analysis: LaserGene software;NCBI, SwissPro etc. resources.

Cultivation:

Work with cell cultures (experience with HEK and CHO cells), transient and stable transfection of cell cultures

Biochemistry:

Protein extraction, Western blotting, co-immunoprecipitation, pull-down experiments.

Cellular Electrophysiology:

Whole cell patch clampof sodium and potassium channels in transiently transfected HEK and CHO cells and stable cell lines

References:

  1. Group Leader (at present time):

Hugues Abriel, M.D., Ph.D., Associate Professor in Department of Pharmacology and Toxicology and Service of Cardiology, University of Lausanne
27, rue du Bugnon, 2nd Floor, Room 216b, CH-1005 Lausanne, Switzerland
tel.: +41-21-692 53 64, fax: +41-21-692 53 55
e-mail:

  1. Head of the Laboratory of DNA-Diagnostics (current job):

Alexander V. Polyakov, B. Sc., Ph.D., Professor,

Russian Research Center for Medical Genetics,

1, Moskvorechie street, 115478 Moscow, Russia

tel.: +7-495-7279502, fax: +7-495-3248110
e-mail:

  1. Collaborator

Larisa S. Prikhodina, M.D., Ph.D., Senior Consultant in the Pediatric Nephrology Department, Secretary of the Russian Association of Pediatrics Nephrology; Member of the Russian Society of Dialysis, European Society for Pediatric Nephrology, International Pediatric Nephrology Association, ERA-EDTA

Moscow Research Institute of Pediatrics and Children Surgery,

2,Taldomskaya Street, Moscow 125412 Russia

tel.: +7-495-4832183, fax: +7(495)4833335

e-mail:

Selected publication:

  1. Rudenskaya G., Polyakov A., Tverskaya S., Zaklyazminskaya E., Chukhrova A., Groznova O., Ginter E.: Laminopathies in Russian families // Clin. Genet. 2008 Jun 16. [Original article, Epub ahead of print]
  1. L. Crotti, C. Spazzolini, P. J. Schwartz, W. Shimizu, I. Denjoy, Schulze-Bahr, E. V.Zaklyazminskaya, H. Swan, M. J. Ackerman, A. J. Moss, A. A.M. Wilde, M.Horie, P. A. Brink, R. Insolia, G. M. De Ferrari and G. Crimi: Severe Clinical Manifestations in Patients With Different Ethnic Backgrounds The Common Long-QT Syndrome Mutation KCNQ1/A341V Causes Unusually. Toward a Mutation-Specific Risk Stratification.//Circulation. 2007; 116: 2366-75
  2. Bokeria L. A., Revishvili A. Sh., Pronicheva I. V., Zaklyazminskaya E. V., Clinical variability and strategy of treatment of the life-threatening ventricular arrhythmias due to mutations in SCN5A gene.// Bulletin of Russian Academy of Science, №5, 2007, p.3-7
  3. E. Zaklyazminskaya, T. Treshkur, E. Parmon, A. Chuhrova, A. Gudkova, A. Polyakov: Dilated cardiomyopathies caused by novel missence mutation in LMNA gene.//Folia Cardiol. 2005; 12. suppl. D, p. 275-277
  1. Zaklyazminskaya E., Kungurova T., Pronicheva I., Revishvili A., Chapurnykh A., Chuprova S., Kozlova S., Shkolnikova M., Polyakov A.: Allelic series of disorders caused by inherited alterations og alfa-subunit sodium channel Nav1.5.// Medical Genetics, Russia, 2006г., №9 , p. 31-36 (Russian)