Davit Babikyan

WHISE-Armenia: Board Member

Head of Laboratory, Center of Medical Genetics and Primary Health Care

Academics:

2017-Present: European Clinical Laboratory Geneticist registered by the European Board of Medical Genetics

2001-2004: PhD degree in Genetics, National Academy of Sciences of Armenia

1999-2001: Master’s degree, Genetics and Cell Biology, Faculty of Biology, Yerevan State University

Experience:

2011-Present: Associate Professor, Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, Yerevan, Armenia

2011-Present: Information representative of Armenia in EU Rare Diseases’ ORPHANET Network

2007-Present: Head of Laboratory of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia

2005-2007: Postdoctoral Fellow at International Agency for Research on Cancer, Lyon, France

2004-2005: Junior Researcher at Center of Medical Genetics of National Academy of Sciences, Yerevan, Armenia

2001-2003: Doctoral Fellow at Institute for Molecular Medicine, Huntington-Beach, USA

Participation in International R&D Projects:

2011: Acting Information scientist of ORPHANET

2014-Present: Expert of State Commettee of Science of Republic of Armenia

2015-2017: ISTC A5151 project manager “Nuclear and mitochondrial genetic variants and molecular bases of mitochondrial OXPHOS diseases”

2014: Manager of project of the State Commettee of Science of Republic of Armenia for Yerevan State Medical University project co-funded by the Center of Medical Genetics and Primary Health Care for Scientific Infrastructure, Material and Technological Upgrade

2013-2017: EC Tempus MedGen project manager “Developing Medical Genetics Education through Curriculum Reforms and Establishment of Postgraduate Training Programs (MedGen)”

2011-2014: EU FP7 INARMERA project manager “INTEGRATING ARMENIA INTO European Research Area”

2008-2012: EU FP6 CHERISH project participant “Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterization and Bioinformatics/Statistics”

2010-2011: ISTC A1580 project manager “Molecular basis of the autoinflammation developed in FMF and related disorders”

International Scientific Experience and Professional Trainings:

2019: Training in Clinical and Whole Exome Sequencing and Molecular Cytogenetics analyses, Genotypos, Athens, Greece European Soceity of Human Genetics Conference 2019, Gothenberg, Sweden

2018:StripAssay and RealFast Assay training, ViennaLab Diagnostics, Vienna, Austria, Human genome and health – First International Conference in Georgia, Tbilisi, Georgia
Preimplantation genetic diagnostics and screening, Belinson Medical Center, Tel Aviv, Israel
Training in new diagnostic developments of genetic disorders and their quality control, Kaiser Permanent, California, USA

2017:Training in Quality Control and Assurance in Higher Education, Medical University of Graz, Austria
European Society of Human Genetics Conference 2017, Copenhagen, Denmark
Basics in human genetic diagnostics – a course for Clinical Laboratory Geneticists, Athens University, Athens, Greece
Laboratory training course of NGS diagnostics, Belinson Medical Center, Tel Aviv, Israel
National Day of Medical Genetics Conference, Yerevan, Armenia

2016: Course of Genomic platform for genetic disorders, Imagine Institute of Rare Disorders, University Descartes Paris, France
Course of Medical Genetics Laboratory Diagnostics, Yerevan State Medical University, Armenia
European Society of Human Genetics Conference 2016, Barcelona, Spain

2015: UNIBO Residential Course in Whole Exome Sequencing and Bioinformatics, University of Bologna, Italy
UNIBO Residential Course in Clinical Cancer Genetics, University of Bologna, Italy
Wellcome Trust Advanced Course Next Generation Sequencing, Cambridge, UK
Training in Clinical Genetics and Genetic Counselling, Plymouth University, UK
Training in Medical Genetics, Medical University of Graz, Austria

2014: European Society of Human Genetics Conference 2014, Milan, Italy

2013: European Society of Human Genetics Conference 2013, Paris, France
Training in NGS technology, University of Copenhagen, Denmark
International Conference of Autoinflammatory Diseases, Lausanne, Switzerland

2012: Conference on Intellectual Disability and Genetic Bases, University of Bologna, Bologna, Italy
Conference of European Association of Cancer Research, Barcelona, Spain
European Society of Human Genetics Conference 2012, Nuremberg, Germany

2011: European Society of Human Genetics Conference 2011, Amsterdam, Netherlands
Training in Genetic Department, Hopital Armand Trousseau, Paris, France
Training in Clinical Service in Biology and Genetics, Hopital Henri Mondor, France

2010: Training in Genetic Department, Hopital Armand Trousseau, Paris, France
International Conference of Autoinflammatory Diseases, Amsterdam, Netherlands
Molecular Karyotyping, University of Tartu, Estonia
European Society of Human Genetics Conference 2010, Gothenberg, Sweden

2009: European Society of Human Genetics Conference 2009, Vienna, Austria

2008: European Society of Human Genetics Conference 2008, Barcelona, Spain
Conference of European Association of Cancer Research, Lyon, France

2007: IARC Workshops “Cancer Epidemiology”, “Genetics Epidemiology”, and “Cancer Registration”, WHO, Lyon, France
ESHG Cancer Genetics and Counselling Summer School, Bologna, Italy

Organization of Scientific Events:

1. “National Medical Genetics Day” International Conference, November, 2017, Yerevan, Armenia
2. “Autoinflammatory Disorders” International Conference, May, 2015, Yerevan, Armenia
3. “MedGen: genetic health and genetic education” International Conference, February, 2014, Yerevan, Armenia
4. “Modern Genetics in health Care system” International Conference, October 2010, Yerevan, Armenia

Membership to Scientific Organizations:

1. European Society of Human Genetics (ESHG)
2. Armenian Association of Human Genetics

Selected Publications:

1. Germline Mutational Spectrum of the Armenian Hereditary Breast Cancer Patients. MM Moradian, DT Babikyan, S Markarian, JG Petrosyan, N Avanesian, T Arutunyan, TF Sarkisian. Submitted to Human Mutation

2. M. Hancarova, D. Babikyan, S. Bendova, S. Midyan, D. Prchalova, G. Shahsuvaryan, V. Stranecky, T. Sarkisian, Z. Sedlacek. A novel homozygous nonsense variant in a consanguineous Armenian family confirms the role of C12orf4 in autosomal recessive intellectual disability and contributes to the definition of associated phenotype. Mol Genet Genomic Med. 2019 Sep;7(9).

3. Moradian MM, Babikyan D, Banoian D, Hayrapetyan H, Manvelyan H, Avanesian N, Sarkisian T. Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF. Mol Genet Genomic Med. 2017 Nov;5(6):742-750.

4. D. Babikyan. Cancer Clinical Genetics (in Armenian). Educational manual, YSMU Publishing, 2017

5. D. Babikyan. Genetics of Male Infertility (in Russian). Book Chapter, Male Health, Yerevan 2015

6. D.Babikyan, S.Midyan, A.Hovhannisyan, A.Gasparyan, T.Sarkisian. De novo single exon deletion of AUTS2 in a patient with profound intellectual disability. Eur. J Hum. Genet. 2014 May 22:151

7. D Babikyan, I Jeru, B Copin, H Hayrapetyan, S Amselem, T Sarkisian. FMF-like state: genetic factors unrelated to MEFV. Pediatric Rheumatology 2013, 11(Suppl 1): A85:29-3

8. D. T.Babikyan, H. Mkrtchyan, S. Midyan, M. Nõukas, K. Männik, A. Hovhannesyan, A. Gasparyan1, T. Liehr, A. Kurg, T. F. Sarkisian; Molecular cytogenetic characterization of a family with 3p deletion and 3p duplication cases Eur. J Hum. Genet. 2012 May 20:52

9. C.Graziano, E.Bonora, J.A.Hettinger, K.Männik, P.Magini, M.Badura-Stronka, E.Õiglane-Slik, J.Kasnauskienè, I.Lebedev, M.Havlovicova, D.Babikyan, L.A.Livshits, T.Sarkisian, A.Latos-Bieleńska, V.Kučinskas, Z.Sedlacek, P.C.Patsalis, A.Kurg, G.Romeo1. CHERISH – Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics – a GENOMIC PROJECT. Eur. J Hum. Genet. 2012 May 20:272-273

10. Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV Classification of Missense Substitutions in the BRCA Genes: a Database Dedicated to Ex-UVs. Hum Mutat. 2012 Jan;33(1):22-8.

11. D.Babikyan, S.Midyan, K.Mannik, S.Parkel, A.Hovhannisyan, H.Mkrtchyan, A.Gasparyan, A.Kurg, T.Sarkisian. Use of SNP-array in a cohort of Armenian children with mental retardation. Eur. J Hum. Genet. 2011 May 19:136

12. H.Puehringer, B.Rauscher, T.Sarkisian, K.Pagava, H.Hayrapetyan, D.Babikyan, I.Korinteli, M.Korinteli, C.Oberkanins. Thalassemia carrier screening in the transcaucasian countries Armenia and Georgia. 12th International Conference on Thalassaemia and other Haemoglobinopathies. May 2011, Abstract book, 55

13. Le Calvez-Kelm F, Lesueur F, Damiola F, Vallee M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB, Breast Cancer Family Registry T, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry (CFR) case-control mutation screening study. Breast Cancer Res. 2011 Jan 18;13(1):R6.

14. C.Graziano, E.Bonora, P.Magini, J.Baptista, G.Tortora, S.Miccoli, K.Mannik, T.Sarkisian, D.Babikyan, S.Midyan, G.Romeo, etc. CHERISH- Improving Diagnoses of Mental Retardation in children in Eastern Europe and Central Asia through genetics characterization and Bioinformatics/Statistics. Eur. J.Hum. Genet. 2010 June 18:85

15. D. Babikyan, H. Hayrapetyan, T.Davtyan, T. Sarkisian. Existence of FMF-like condition unrelated to MEFV. Eur. J. Hum. Genet. 2010 June 18:318

16. Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009; 85(4):427-46

17. Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE; kConFab Investigators. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis–a report from the kConFab Investigators. J Clin Oncol. 2008; 26(10):1657-63

18. D.T.Babikyan, F. Lesueur, C. Voegele, M. Hashibe, J. Hall, G.B. Byrnes, S.V.Tavtigian. Analysis of ATM case-control mutation screening data. European Journal of Human Genetics, 2008, 16:sup2, p218-219.

19. Ghochikyan A, Vasilevko V, Petrushina I, Movsesyan N, Babikyan D, Tian W, Sadzikava N, Ross TM, Head E, Cribbs DH, Agadjanyan MG. Generation and characterization of the humoral immune response to DNA immunization with a chimeric beta-amyloid-interleukin-4 minigene Eur J Immunol. 2003 Dec; 33(12):3232-41

20. Cribbs DH, Ghochikyan A, Vasilevko V, Tran M, Petrushina I, Sadzikava N, Babikyan D, Kesslak P, Kieber-Emmons T, Cotman CW, Agadjanyan MG. Adjuvant-dependent modulation of Th1 and Th2 responses to immunization with beta-amyloid. Int Immunol. 2003 Apr; 15(4):505-14

GeneBank Annotations:

1. Tavtigian S.V., Babikyan D.T. Ataxia telangiectasia mutated protein (Monodelphis domestica). GeneBank: ACG68568.1, 18 Aug 2008

2. Tavtigian S.V., Babikyan D.T. Monodelphis domestica ataxia telangiectasia mutated protein (ATM) mRNA, partial coding sequence. GenBank: EU908686.1, 18 Aug 2008

3. Tavtigian S.V., Babikyan D.T. Ataxia telangiectasia mutated protein (Monodelphis domestica). GenBank: ACG68567.1, 18 Aug 2008

4. Tavtigian S.V., Babikyan D.T. Monodelphis domestica ataxia telangiectasia mutated protein (ATM) mRNA, partial coding sequence. GenBank: EU908685.1, 18 Aug 2008

5. Babikyan D., Lesueur F., Voegele C., Vallee M., Hashibe M., Chuang S.C., Hall J., Byrnes G.B. and Tavtigian S.V. Ataxia telangiectasia mutated (Strongylocentrotus purpuratus), GenBank: ABY60856.1, 14 Jan 2008

6. Babikyan D., Lesueur F., Voegele C., Vallee M., Hashibe M., Chuang S.C., Hall J., Byrnes G.B. and Tavtigian S.V. Strongylocentrotus purpuratus ataxia telangiectasia mutated (ATM) mRNA, complete coding sequence, GenBank: EU352855.1, 14 Jan 2008

7. Tavtigian S.V., Babikyan D., Monnier S. and Voegele C. BRCA2 (Strongylocentrotus purpuratus), GenBank: ABP57025.2, 11 Oct 2007

8. Tavtigian S.V., Babikyan D., Monnier S. and Voegele C. Strongylocentrotus purpuratus BRCA2 (brca2) mRNA, partial coding sequence, GenBank: EF523433.2 11 Oct 2007

9. Tavtigian S.V., Babikyan D. and Voegele C. BRCA2 (Xenopus (Silurana) tropicalis), GenBank: ABP48763.1, 18 Apr 2007

10. Tavtigian S.V., Babikyan D. and Voegele C. Xenopus tropicalis BRCA2 (brca2) mRNA, partial coding sequence, GenBank: EF508681.1, 18 Apr 2007

11. Tavtigian S.V., Babikyan D., Voegele C. and Samollow P.B. BRCA2 (Monodelphis domestica), GenBank: ABP48762.1, 18 Apr 2007

12. Tavtigian S.V., Babikyan D., Voegele C. and Samollow P.B. Monodelphis domestica BRCA2 (brca2) mRNA, partial coding sequence, GenBank: EF508680.1, 18 Apr 2007