Софийски университет "Св. Климент Охридски"

CV

Mariya Ivanova Email: ahmbi@chem.uni-sofia.bg Tel.: + 359 2 8161210, Sofia University „St. Kliment Ohridski” Faculty of Chemistry and Pharmacy 1164 Sofia, 1 James Bourchier Blivd.

Education

• M. Sc. – Chemistry, Organic and Analytical Chemistry, University of Sofia, “St. Kliment Ohridski”, 1984
• Ph.D – Clinical laboratory”, Medical University-Sofia, 2009

Professional Experience

• Associate Professor, Analytical Chemistry, Sofia University „St. Kliment Ohridski”, 2015-
• Expert at the National Genetic Laboratory, SBALAG "Maichin Dom", Sofia
• Head of Metabonomics Sector, National Genetic Laboratory, SBALAG "Maichin Dom", Sofia 2003-2015
• Specialist, National Genetic Laboratory, SBALAG "Maichin Dom", Sofia-1992-2003
• Chemist, Faculty of Chemistry, Sofia University "St. Kl. Ohridski", 1985 - 1992

Specializations and Visiting Researcher at:

• Clinical Genetics Course, TEMPUS, Bankya (1992);
• Preventive Medicine Course, Sestri Levante, Italy (1994);
• TEMPUS course, "Trends in the Clinical Laboratory", Sofia (1996);
• Course on chromatography with mass spectrometry at the "1st Balkan Waters HPLC&MS school", Krug International/Hemtek/Waters, Belgrade, Serbia, (2006).

Research Interests

• Clinical chemistry
• Human metabolomics
• Rare inherited metabolic diseases
• New biomarkers for the diagnosis of inborn errors of metabolism
• Masspectrometry and new technologies in clinical practice;

Selected Publications

1. D.M. Avdjieva-Tzavella, M.B. Ivanova at al, First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene (2014). Genetic counseling, 25 (3), 2014: 271-276
2. I.S. Ivanov, D.N. Azmanov, M.B. Ivanova et al., Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children (2014). Molecular Genetics and Metabolism, 113(1-2 SI), 2014: 76-83
3. DMS McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, .. Ivanoava, Maria at al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genetics in Medicine 13 (3), 2011, 230-254
4. Zerjav Tansek, M., Groselj, U., Angelkova, N., Anton, D., Baric, I., Djordjevic, M., Grimci, L., Ivanova, M., Kadam, A., Kotori, V., Maksic, H., Marginean, O., Margineanu, O., Miljanovic, O., Moldovanu, F., Muresan, M., Nanu, M., Samardzic, M., Sarnavka, V., Savov, A., Stojiljkovic, M., Suzic, B., Tincheva, R., Tahirovic, H., Toromanovic, A., Usurelu, N., Battelino, T. Phenylketonuria screening and management in southeastern Europe - Survey results from 11 countries (2015) Orphanet Journal of Rare Diseases, 10 (1), art. no. 68, . DOI: 10.1186/s13023-015-0283-0 MZ
5. Daniela Avdjieva-Tzavella, Albena Todorova, Hadil Kathom, Maria Ivanova, Iglika Yordanova, Tihomir Todorov, Ivan Litvinenko, Anna Dasheva-Dimitrova, Radka Tincheva: Barth syndrome in male and female siblings caused by a novel mutation in the TAZ gene. Genetic counseling (Geneva, Switzerland) (2016) 12/2016; 27(4)

List of Publications

Project Activity – (Research Projects in the last 5 years)

National projects

• “Genetic and biochemical profiling in Bulgarian patients with Canavan disease", MU-Sofia, 2024
• "Metabonomic studies in newborns in the Bulgarian population" - Scientific Fund of Sofia University "St. Kliment Ohridski", №172/13.04.2016
• A model of intensive metabolic screening for the diagnosis of inherited diseases in childhood"– Research Fund, Ministry of Education (1997-1999
• "Diagnosis of Inborn Metabolic Diseases in the Neonatal Period" - Scientific Fund of MU-Sofia (1997-2000)

International projects:

• „MS/MS Data Project and Laboratory Quality Improvement of NBS by MS/MS (Region 4 Stork)“, финансиран от The Health Resources and Services Administration (HRSA) and Maternal and Child Health Bureau (MCHB), USA, Grand U22MC03963 (2011-2012 г.) – член на колектив
• „Collaborative Laboratory Integrated Reports (CLIR) - Newborn Screening Transnational Research Network“ - финансиран от The Eunice Kennedy Shriver National Institute of Child Health and Human Development, USA (2012-2015 г.) – член на колектив

Teaching Activity

Co-authorship in books and book chapters

Rare genetic diseases in two parts. Edited by Prof. D. Toncheva, Simpelpress Publishing House, ISBN 978-619-183-012-1, Sofia (2014)

Textbooks and teaching aids

1. M. Ivanova, I. Stoeva, Screening and screening programs. Textbook of Pediatrics. For medical students, First edition, ISBN:978-619-7063-38-7, ARBILIS Ltd , Sofia, 2020
2. Maria Ivanova, I. Stoeva, "Screening and Screening Programs" Pediatrics. Textbook for medical students, First edition, ISBN:978-619-7063-32-5, Arbilis Publishing House , Sofia (2019)
3. Medical genetics in clinical practice. Guide for physicians and students. CIELA Publishing House, ISBN 954-649-199-3, Sofia (1999)

External Scientific Service Activities

• The European Society of Human Genetics (ESHG)
• Youth Association for Molecular Genetics in Medicine, Bulgaria
• External Expert at the Expert Centre for Rare Metabolic Diseases in Paediatrics at the Hospital for Children "Prof. Ivan Mitev" - 2020 -