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, genomics, research methodology and haematology within the Department of Applied Biomedical Science and the Centre for Molecular Medicine and Biobanking

Ongoing research interests focus on the genomics of 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, Parkinson's disease and Myocardial infarction.

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 and transcriptomics
  • Inborn errors of metabolism
  • Genetics and genomics of rare disease
  • Myocardial infarcion

ATTARD, R., DINGLI, P., DOGGEN, C., CASSAR, K., FARRUGIA, R. and BEZZINA WETTINGER, S., 2017. The impact of passive and active smoking on inflammation, lipid profile and the risk of myocardial infarction. Open heart, 4(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. and 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, 4(1), pp. 64.

WRIGHT, J.R., KRISHNAN, U., FARRUGIA, R., WATKINS, N.A., ELLIS, P., LAMGFORD, C., OWEHAND, W.H. and GOODALL, A.H., 2009. Platelet soluble mediators induce a monocyte gene expression profile that is anti-inflammatory, antithrombotic and pro-angiogenic, 2009.

SIVAPALARATNAM, S., FARRUGIA, R., NIEUWDROP, M., GUSNANTO, A., WATKINS, N.A., ZWAGINGA, J.J., OWEHAND, W.H., TRIP, M.D., STROES, E. and KASTELEIN, J.J., 2008. Toll like receptor 4 activation elicits pro-atherogenic gene activation in monocytes in humans, 2008.

FARRUGIA, R., GUSNANTO, A., ELLIS, P., LANGFORD, C.F., GOODALL, A.H., WATKINS, N.A. and OUWEHAND, W.H., 2007. Monocyte response to activated platelets: A transcriptional study, 2007.

FARRUGIA, R., SCERRI, C.A., MONTALTO, S.A., PARASCANDOLO, R., NEVILLE, B.G. and FELICE, A.E., 2007. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. Molecular genetics and metabolism, 90(3), pp. 277-283.

FARRUGIA, R., GARNER, S.F., GRAY, E., WATKINS, N.A., GOODALL, A.H. and OWEHAND, W.H., 2006. Variation in the ex-vivo response to LPS stimulation in healthy volunteers: identification of extremes of monocyte function, 2006.

NEVILLE, B.G., PARASCANDALO, R., FARRUGIA, R. and FELICE, A., 2005. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain : a journal of neurology, 128(Pt 10), pp. 2291-2296.

MACAULAY, I.C., CARR, P., FARRUGIA, R. and WATKINS, N.A., 2004. Analysing the platelet transcriptome. Vox sanguinis, 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. and DIANZANI, I., 2000. Genotype-phenotype correlation in dihydropteridine reductase deficiency. Journal of inherited metabolic disease, 23(4), pp. 333-337.

FARRUGIA R., DIANZANI I., ATTARD MONTALTO S., FELICE A.E., 2000. Dihydropteridine reductase deficiency accounts for all Phenylketonuria in the Maltese population, , 13-17 September 2000 2000, Springer Link, pp. 44.

  • ABS5001 - Advanced Genetics and Molecular Techniques
  • ABS5002 - Research, Data Analysis and Interpretation
  • ABS5003 - Research Methodology for -Omics
  • ABS5004 - Molecular Biology
  • HSC2001 - Critical Thinking in Ethical Applications for Bioscientists
  • MDS1010 - Blood and Body Defence Mechanisms
  • MLS2002 - Molecular Biology/Genetics
  • MLS2018 - Haematopathology
  • MLS3013 - Research Methods
  • MMB3001 - Theoretical Backgrounds to Biomedical Research
Ongoing Projects
The Maltese Acute Myocardial Infarction (MAMI) Study
The Malta NGS Project
Genetics and genomics of Polycystic Kidney Disease
Genetics and genomics of Idiopathic Hypogonadotropic Hypogonadism

Completed Projects
TrainMALTA (H2020 Twinning)

COST actions
CardioRNA: Catalysing transcriptomics research in cardiovascular disease (CA17129)
PARQ: Sudden cardiac arrest prediction and resuscitation network: Improving the quality of care (CA19137)