Stephanie Bezzina Wettinger BSc, MPhil, PhD is an Associate Professor in Molecular Genetics at the Department of Applied Biomedical Science, Faculty of Health Sciences at the University of Malta. She is also affiliated with the Centre for Molecular Medicine and Biobanking. She is principal investigator and coordinator of several large research projects including the EIC Pathfinder project TargetMI: A Multi-omics Approach for Novel Drug Targets, Biomarkers and Risk Algorithms for Myocardial Infarction based on a previous project the Maltese Acute Myocardial Infarction (MAMI) Study, and the Malta Next Generation Sequencing (NGS) project which involves research on 15 different genetic conditions including autism spectrum disorder, hypertrophic cardiomyopathy and speech language impairment amongst others. She is co-Chief Investigator in the Horizon Europe ERA Chair project BioGeMT, Bioinformatics for Genomics in Malta.
She is also principal investigator of the MCST COVID19 2020 funded project TargetID: Novel Drug Targets for Infectious Diseases in which the whole genome sequences and transcriptomes of 1000 research subjects were obtained. In 2020 she was also the recipient of the Research Excellence Award from the University of Malta to carry out research on Pseudoexfoliative Glaucoma.
After starting her career with the Department of Health setting up genetic diagnostics she coordinated the Maltese arm of the FP5 Geoparkinson Study and took up a Marie Curie Fellowship at the Academic Medical Centre in Amsterdam. After obtaining her PhD she pursued a research and academic career in molecular genetics and genomics. She was also a Team Member on the TrainMALTA Project which has helped train Maltese researchers in Bioinformatics applied to Genomics.
She has supervised many graduate and postgraduate students in their research projects and she has lectured 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 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.
