Dr Portelli graduated with a degree in Pharmacy from the University of Malta in 2008, presenting an Honours Thesis investigating the transcriptional regulation of the Chemokine Receptor 4 gene in relation to Asthma. Following a year of Clinical work, Dr Portelli was one of the first awardees to receive an EU funded scholarship via the STEPs program (Malta) to investigate the role of the urokinase receptor uPAR in relation to the bronchial epithelium in asthma and COPD. He therefore joined the Division of Therapeutics and Molecular Medicine at the University of Nottingham as a PhD candidate under the joint tutelage of Prof Ian Sayers and Prof Ian Hall to carry out this work and sucessfully presented his doctoral thesis in 2013, publishing in FASEBJ, Allergy, the ERJ and the American Journal of Respiratory Cell and Molecular Biology. Dr Portelli then joined Prof Ian Hall's group in the Division of Respiratory Medicine at the University of Nottingham on a industrial collaboration before moving on to Prof Ian Sayer's group to work on a 3 year Asthma UK project investigating the role of polymorphisms on the role of IL33 and it's receptor IL1RL1 in bronchial epithelial cells in asthma. Following the sucessful conclusion of this grant Dr Portelli has been involved in industrial collaborations with both AnaptysBio and GSK, working on blocking strategies for the IL33 and IL1RL1 pathways
During his time at the University of Nottingham Dr Portelli has attended a number of national and international conferences including the ATS and ERS annual conferences, presenting his original research to a wide and varied audience. Dr Portelli has also published a number of reviews and book chapters, contributing to the field of respiratory disease, especially in the area of pharmacogenetics.
Dr Portelli has been a Fellow of the Higher Education Faculty as of 2012 and has been a regular visting lecturer to the Division of Pharmacology and Therapeutics at the University fo Malta as of 2016 and a non-visiting external examiner as of 2018
Wain LV, Shrine N, Soler Artigas M, Erzurumluoglu AM, Noyvert B, Bossini-Castillo L, Obeidat M, Henry AP, Portelli MA, et al. Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. Nature Genetics in press.
Portelli MA, Moseley C, Stewart CE, Postma DS, Howarth P, Warner JA, et al. Airway and peripheral urokinase plasminogen activator receptor is elevated in asthma, and identifies a severe, nonatopic subset of patients. Allergy 2016 Oct 5
Portelli MA, Ierodiakonou D, Postma DS, Koppelman GH, Gerritsen J, et al. Urokinase Plasminogen Activator Receptor polymorphisms and airway remodelling in asthma. The European respiratory journal. 2016 Feb 11. PubMed PMID: 26869673
Sayers I, Portelli MA, Siedlinski M. Response to letter to the Editor. FASEB J. 2015 Dec;29(12):4759. PMID: 26626708
Portelli MA, Stewart CE, Hall IP, Brightling CE and Sayers I. Cigarette Smoke and the Induction of Urokinase Plasminogen Activator Receptor In Vivo: Selective Contribution of Isoforms to Bronchial Epithelial Phenotype. Am J Respir Cell Mol Biol. 2015 Aug;53(2): 174-83. PMID: 25490122
Wain LV, Sayers I, Soler Artigas M, Portelli MA, Zeggini E, Obeidat M, et al. Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction. PLoS genetics. 2014 May;10(5):e1004314. PubMed PMID: 24786987
Portelli MA, Siedlinski M, Stewart CE, Postma DS, Nieuwenhuis M, Vonk JM et al. Genome-Wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels. FASEB journal: official publication of the Federation of American Societies for Experimental Biology. 2014 Feb;28(2):923-34. PubMed PMID: 24249636. Pubmed Central PMCID: 3898658
Portelli M and Sayers I (October 2016) Genome-Wide Association Studies in Asthma. In: eLS. John Wiley & Sons, Ltd: Chichester.
Portelli MA, Hodge E, Sayers I. Genetic risk factors for the development of allergic disease identified by genome wide association. Clinical and experimental allergy: journal of the British Society for Allergy and Clinical Immunology. 2014 Apr 26. PubMed PMID: 24766371.
Portelli MA, Hall IP, Sayers I. Identification of a novel regulatory mechanism for the disease associated protein, uPAR. Malta Medical Journal. 2014 May: 1(24): 32-7.
Portelli M, Sayers I. Genetic basis for personalized medicine in asthma. Expert Rev Respir Med. 2012 Apr;6(2):223-36.
Portelli MA, Fenech AG. 'Chemokines; New Targets for Old Diseases' Synapse. 2009.
Fenech AG, Sayers I, Portelli MA. Pharmacogenetics of asthma. Chapter in Preventative and Predictive Genetics: Towards Personalised Medicine Volume 9. Publication Date: August 6, 2015. ISBN 978-3-319-15343-8. ISSN 2211-3495.
Shaw D, Portelli M & Sayers I. Asthma. Chapter in Handbook of Pharmacogenomics and Stratified Medicine. Publication Date: May 15, 2014. ISBN-10: 0123868823. ISBN-13: 978-0123868824
Molecular Biology: Experience in a variety of molecular biology techniques to investigate the functional pathways relating to lung disease. This involves, but is not limited to, techniques relating to gene expression such a PCR, q-PCR, molecular cloning involving mammalian vectors and lentiviral procudures, techniques relating to protein expression such as ELISA, Western Blotting and functional Assays
Population Genetics: Has experience in the set-up and maintenece of large population datasets (GASP) and is involved in utilising such datasets in genetic association analysis to identify gene loci involved in respirotory disease, such as FBAT, GWAS, RNA-sequenceing and Genome re-sequencing
Cell Biology: Has experinece in the culturing of cell lines and primary cells, with a focus on human bronchial epithelial cells. Has been involved in the collection ond banking of epithelial cells from patient bronchoscopies. Has also utilised these cell populations in a variety of assays and models such as Air Liquid Interface, and an epithelial scratch-wound model, to determine cell-specific resposnses and functional pathays in respiratory disease
Visiting Lecturer in Pharmacogenetics for the Division of Pharmacology and Therapeutics, University of Malta
Co-Supervisior for undergraduate B.Med Sci final year students at the School of Medicine, University of Nottingham
Bench Supervisor for Undergraduate, Masters and PhD students at the Division of Respiratory Medicine, University of Nottingham
PORTELLI MA, STEWART CE, HALL IP, BRIGHTLING CE and SAYERS I, 2014. Cigarette Smoke Induces uPAR in Vivo and Isoforms Selectively Contribute to Bronchial Epithelial Phenotype. American journal of respiratory cell and molecular biology.
IERODIAKONOU, D., PORTELLI, M.A., POSTMA, D.S., KOPPELMAN, G.H., GERRITSEN, J., HACKEN, N.H.T.T., TIMENS, W., BOEZEN, H.M., VONK, J.M. and SAYERS, I., 2016. Urokinase plasminogen activator receptor polymorphisms and airway remodelling in asthma European Respiratory Journal. 47(5), 1568-1571 PORTELLI MA, SIEDLINSKI M, STEWART CE, POSTMA DS, NIEUWENHUIS MA, VONK JM, NURNBERG P, ALTMULLER J, MOFFATT MF, WARDLAW AJ, PARKER SG, CONNOLLY MJ, KOPPELMAN GH and SAYERS I, 2013. Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels. FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
PORTELLI M and SAYERS I, 2012. Genetic basis for personalized medicine in asthma. Expert review of respiratory medicine. 6(2), 223-36
Project Title: Functional characterisation of asthma associated gene, PLAUR
The Urokinase Plasminogen Activator Receptor (PLAUR;uPAR) is the receptor for Urokinase, regulating Plasminogen/Plasmin pathway activation. This receptor has been associated with a number of diseases, such as prostate and breast cancer, HIV, kidney disease, diabetes, asthma and COPD, with elevated levels associated with poor prognosis and survivability.
A role for uPAR in the modulation of kidney disease has also been recently defined. Based on this, my PhD aims to further understanding of the regulation at the gene level for the receptor, to identify a role for different forms of the receptor at the cellular level (Bronchial Epithelial cells), to identify a role for the freely circulating form of the receptor in obstructive lung disease and to identify novel and disease specific variation in the gene and surrounding areas. This work commenced in September 2009 and was funded by a STEPS (Malta) scholarship which is part-financed by the European Union -European Social Fund (ESF) under Operational Programme II -Cohesion Policy 2007-2013, "Empowering People for More Jobs and a Better Quality of Life".