Dr Rosienne Farrugia

Dr Rosienne Farrugia

Dr Rosienne Farrugia


Senior Lecturer

Room 21, Block A, Level 1
Mater Dei Hospital
Room 420
Biomedical Sciences Building
  +356 2340 1107, +356 2340 3281
Rosienne Farrugia is a senior lecturer in genetics, research methodology and haematology within the Department of Applied Biomedical Science.

Ongoing research interests focus on the genomics of rare diseases including tetrahydrobiopterin deficiencies (a group of disorders resulting in impaired cognitive and motor development), idiopatic hypogonadotropic hypogonadism (a spectrum of disorders causing delayed puberty and infertility), polycystic kidney disease, Hirschprung disease and Parkinson's disease.

Dr Farrugia is also the coordinator of TrainMALTA, an EU H2020 Twinning grant held with the University of Cambridge, UK and the Katholieke Universiteit, Leuven focusing on Interdisciplinary Training in High-Throughput Sequencing, Bioinformatics and Model Systems: Moving towards Clinical applications of Genomics (https://www.um.edu.mt/project/trainmalta)
  • Molecular genetics
  • Genomics
  • Inborn errors of metabolism
  • Genetics and genomics of rare disease

Attard, R., Dingli, P., Doggen, C., Cassar, K., Farrugia, R. & Bezzina Wettinger, S. 2017, "The impact of passive and active smoking on inflammation, lipid profile and the risk of myocardial infarction", Open heart, vol. 4, no. 2, pp. e000620.

Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia and Stephanie Bezzina Wettinger 2016, "Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR", BMC Medical Genetics, .

Sivapalaratnam, S., Farrugia, R., Nieuwdorp, M., Langford, C.F., Van Beem, R.T., Maiwald, S., Zwaginga, J.J., Gusnanto, A., Watkins, N.A., Trip, M.D. & Ouwehand, W.H. 2011, "Identification of candidate genes linking systemic inflammation to atherosclerosis; results of a human in vivo LPS infusion study", BMC medical genomics, vol. 4, no. 1, pp. 64.

Farrugia, R., Scerri, C.A., Montalto, S.A., Parascandolo, R., Neville, B.G. & Felice, A.E. 2007, "Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population", Molecular genetics and metabolism, vol. 90, no. 3, pp. 277-283.

Neville, B.G., Parascandalo, R., Farrugia, R. & Felice, A. 2005, "Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder", Brain : a journal of neurology, vol. 128, no. Pt 10, pp. 2291-2296.

Macaulay, I.C., Carr, P., Farrugia, R. & Watkins, N.A. 2004, "Analysing the platelet transcriptome", Vox sanguinis, vol. 87 Suppl 2, pp. 42-46.

de Sanctis, L., Alliaudi, C., Spada, M., Farrugia, R., Cerone, R., Biasucci, G., Meli, C., Zammarchi, E., Coskun, T., Blau, N., Ponzone, A. & Dianzani, I. 2000, "Genotype-phenotype correlation in dihydropteridine reductase deficiency", Journal of inherited metabolic disease, vol. 23, no. 4, pp. 333-337.

  • ABS5001 - Advanced Genetics and Molecular Techniques
  • ABS5002 - Research, Data Analysis and Interpretation
  • BIO5110 - Applied Bioinformatics
  • HSC2001 - Critical Thinking in Ethical Applications for Bioscientists
  • MDS1010 - Blood and Body Defence Mechanisms
  • MDS3104 - Ethical, Legal and Social Implications (ELSI) in Medical Research
  • MLS2002 - Molecular Biology/Genetics
  • MLS2018 - Haematopathology
  • MLS3013 - Research Methods
  • MMB3001 - Theoretical Backgrounds to Biomedical Research
  • PHB1102 - Renal Physiology and Haematology
  • PHB1121 - Renal Physiology and Haematology
  • PHB1501 - Applied Molecular Bioscience 1: DNA Technology
  • PHB5030 - Molecular Biology and Genetics