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 is principal investigator of several large research projects including the Maltese Acute Myocardial Infarction (MAMI) Study which includes extensive data on and biological samples from over 1000 research subjects, 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, in collaboration with the Department of Health and Mater Dei Hospital respectively.
She is also principal investigator of the MCST COVID19 2020 funded project TargetID: Novel Drug Targets for Infectious Diseases (https://www.um.edu.mt/projects/targetid) which will involve obtaining whole genome sequences and transcriptomes of 1000 research subjects. 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 she took up a Marie Curie Fellowship at the Academic Medical Centre in Amsterdam working on Myocardial Infarction. 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 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.