Dr Stephanie Bezzina Wettinger

Dr Stephanie Bezzina Wettinger

Dr Stephanie Bezzina Wettinger


Senior Lecturer

Room 18
Block A, Level 1,
Mater Dei Hospital
  +356 2340 1144
Stephanie Bezzina Wettinger BSc, MPhil, PhD is a senior lecturer in Molecular Genetics at the Department of Applied Biomedical Science, Faculty of Health Sciences at the University of Malta. She has extensive experience in genetic diagnostics having worked as a scientific officer with the Health Department for ten years until she pursued her research and academic career in molecular genetics. She has conducted research on various conditions including haemoglobinopathies, Parkinson’s disease, myocardial infarction, recurrent miscarriages, autism, hypertrophic cardiomyopathy and pseudoexfoliative glaucoma amongst other areas. She was a Marie Curie Fellow at the Academic Medical Centre in Amsterdam. She coordinated the Maltese arm of the FP5 Geoparkinson Study and is the principal investigator of two large research projects, the Maltese Acute Myocardial Infarction (MAMI) Study which includes extensive data on and biological samples from over 1000 research subjects for the study of myocardial infarction, and the Malta Next Generation Sequencing (NGS) Project which involves research on 15 different genetic conditions, in collaboration with the Department of Health and Mater Dei Hospital respectively. She was a Team Member on the TrainMALTA Project which is helped train Maltese researchers to Bioinformatics. She has supervised many graduate and postgraduate students in their research projects and she lectures in Genetics and Research Methods. She has used her knowledge on biobanking and ethics related to genetic studies to set up collections of biological samples and related data for various conditions. She has experience in sifting through high throughput genetic sequencing and RNA profiling data, with the goal of understanding the genetic basis of disease and ultimately to facilitate diagnosis and to find ways to prevent or overcome the effects of these conditions.
  • Molecular Genetics
  • High Throughput Sequencing
  • Biobanking
  • Epidemiology
  • Myocardial Infarction
  • Complex Diseases
  • Rare Diseases

Attard, R., Dingli, P., Doggen, C.J.M., Cassar, K., Farrugia, R. & Bezzina, S.W. 2017, "The independent effect of helicobacter pylori infection and elevated gastrin levels on the risk of myocardial infarction", Atherosclerosis, vol. 263, pp. e96-e97.

Zahra, C., Tabone, C., Camilleri, G., Felice, A.E., Farrugia, R. & Wettinger, S.B. 2016, "Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR", BMC medical genetics, vol. 17, no. 1, pp. 65.

von Otter, M., Bergström, P., Quattrone, A., De Marco, E.V., Annesi, G., Söderkvist, P., Wettinger, S.B., Drozdzik, M., Bialecka, M. & Nissbrandt, H. 2014, "Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson’s disease–a multicenter study", BMC medical genetics, vol. 15, no. 1, pp. 131.

van Minkelen, R., Wettinger, S.B., de Visser, M.,C.H., Vos, H.L., Reitsma, P.H., Rosendaal, F.R., Bertina, R.M. & Doggen, C.J.M. 2009, "Haplotypes of the interleukin-1 receptor antagonist gene, interleukin-1 receptor antagonist mRNA levels and the risk of myocardial infarction", Atherosclerosis, vol. 203, no. 1, pp. 201-205.

Dick, F.D., Seaton, A., Haites, N., Semple, S.E., Dick, S., Prescott, G.J., Scott, N.W., Bennett, J.E., Counsell, C.E. & Mutti, A. 2007, "Environmental risk factors for Parkinson's disease and parkinsonism: the Geoparkinson study", Occupational and environmental medicine, .

Dick, F., De Palma, G., Ahmadi, A., Osborne, A., Scott, N.W., Prescott, G.J., Bennett, J., Semple, S., Dick, S. & Mozzoni, P. 2007, "Gene-environment interactions in parkinsonism and Parkinson's disease: the Geoparkinson study", Occupational and environmental medicine, .

Felice, A.E., Borg, J., Pizzuto, M., Cassar, W., Galdies, R., Bezzina Wettinger, S., Pulis, S., Hunter, G.J., Caruana, M.R. & Farrugia, M. 2007, "A Review of Cis-Trans Interplay Between DNA Sequences 5′ to the Gγ-and β-Globin Genes Among Hb F-Malta-I Heterozygotes/Homozygotes and β-Thalassemia Homozygotes/Compound Heterozygotes, and the Effects of Hydroxyurea on the Hb F/F-Erythrocyte; the Need for Large Multicenter Trials", Hemoglobin, vol. 31, no. 2, pp. 279-288.

Pulis, S., Scerri, C.A., Schembri Wismayer, P., Galdies, R., Bezzina Wettinger, S. & Felice, A.E. 2007, "Developmental effect of the Xmn I site on Gγ-globin gene expression among newborn Hb F-Malta-I Gγ117 (G19) His→ Arg, CAT→ CGT] heterozygotes and adult β+-thalassemia homozygotes", Hemoglobin, vol. 31, no. 1, pp. 71-82.

Abela Medici, J., Bezzina Wettinger, S., Scerri, C., Grochowska, A. & Felice, A.E. 2005, "Comparative frequency of Coagulation Factor II and Coagulation Factor V Alleles among new-born and senior citizens", .

Wettinger, S.B. & Reitsma, P.H. 2005, "Atherosclerosis and its acute consequences: insights from genetic association studies", Current Genomics, vol. 6, no. 6, pp. 411-429.

Wettinger, S.B., Doggen, C.J.M., Spek, C.A., Rosendaal, F.R. & Reitsma, P.H. 2005, "High throughput mRNA profiling highlights associations between myocardial infarction and aberrant expression of inflammatory molecules in blood cells", Blood, vol. 105, no. 5, pp. 2000-2006.

Balim, Z., Kosova, B., Falzon, K., Bezzina Wettinger, S. & Colak, Y. 2003, "Budd–Chiari syndrome in a patient heterozygous for the point mutation C20221T of the prothrombin gene", Journal of Thrombosis and Haemostasis, vol. 1, no. 4, pp. 852-853.

Wettinger, S.B., Galdies, R., Scerri, C. & Felice, A.E. 1999, "Characterization and locus assignment of two α-globin variants present in the Maltese population: Hb St. Luke's α95 (G2) Pro→ Arg] and Hb Setif α94 (G1) Asp→ Tyr]", Hemoglobin, vol. 23, no. 2, pp. 145-157.

  • ABS5001 - Advanced Genetics and Molecular Techniques
  • ABS5002 - Research, Data Analysis and Interpretation
  • ABS5003 - Research Methodology for -Omics
  • ABS5004 - Molecular Biology
  • MLS2002 - Molecular Biology/Genetics
  • MLS3013 - Research Methods
Ongoing Projects:
Malta Next Generation Sequencing (NGS) Project (Principal Investigator)
Maltese Acute Myocardial Infarction (MAMI) Study (Principal Investigator)
TrainMALTA Twinning.