Prof. Ruben J Cauchi

Prof. Ruben J Cauchi

Prof. Ruben J Cauchi

 B.Sc. (Hons.)(Melit.),D.I.C.,M.Sc.(Lond.),D.Phil.(Oxon.)

Associate Professor

Office 314
Third Floor
Biomedical Sciences Building
University of Malta
  +356 2340 2145
Prof. Ruben Cauchi is an Associate Professor of Neurogenetics within the Dept. of Physiology & Biochemistry at the Faculty of Medicine & Surgery and Principal Investigator (P.I.) at the Centre for Molecular Medicine & Biobanking. Prof. Cauchi obtained his D.Phil. from the University of Oxford (UK) working on genetic animal models of motor neuron disease and went on to do postdoctoral research at the MRC Laboratory of Molecular Biology, University of Cambridge (UK), studying RNA processing. Prof. Cauchi heads the ALS/MND Lab at the University of Malta and leads Malta’s National ALS/MND Registry & BioBank, aiming at understanding the cause of motor neuron disease (MND) including amyotrophic lateral sclerosis (ALS) and identify innovative treatments. Making use of both pre-clinical and clinical approaches, Prof. Cauchi’s lab was key to several scientific breakthroughs published in high-impact journals. A well-published academic with more than 17 years’ experience in research, Prof. Cauchi is considered as an eminent expert on motor neuron diseases including ALS. In this regard, he serves as an editorial board member of Nature Scientific Reports, PLoS ONE, BMC Neuroscience and PeerJ, and acts as an ad hoc reviewer for top-tier journals, including the Springer Nature and PLoS family, as well as funding bodies including Biotechnology and Biological Sciences Research Council (UK), Medical Research Council (UK), Medical Research Foundation (UK), Association Française contre les Myopathies (AFM)-Telethon (France), Agence Nationale de la Recherche (France) and Spinal Muscular Atrophy (SMA) Europe. Prof. Cauchi served as the Editor of an academic book focused on the use of pre-clinical approaches to studying motor neuron disease, featuring contributions penned by established leaders in the field. Prof. Cauchi is presently the Malta representative of the E.U. Cooperation in Science and Technology (COST) Action focusing on the clinical application of antisense-mediated exon skipping in neuromuscular disease. Recently, he leads the MCST COVID-19 R&I Project ACE which aims at developing an innovative therapeutic approach against the SARS-CoV-2 virus.
  • Motor Neuron Disease (MND)
  • Amyotrophic Lateral Sclerosis (ALS)
  • Spinal Muscular Atrophy (SMA)
  • RNA and RNA-binding proteins
  • Functional genetics
  • Fly models of degenerative motor neuron disease
  • Cell bodies or organelles

BORG, R., FARRUGIA WISMAYER, M., BONAVIA, K., FARRUGIA WISMAYER, A., VELLA, M., VAN VUGT, J.J.F.A., KENNA, B.J., KENNA, K.P., VASSALLO, N., VELDINK, J.H. and CAUCHI, R.J., 2021. Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics : EJHG, 29(4), pp. 604-614.

FARRUGIA WISMAYER, M., BORG, R., FARRUGIA WISMAYER, A., BONAVIA, K., VELLA, M., PACE, A., VASSALLO, N. and CAUCHI, R.J., 2021. Occupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta. Amyotrophic lateral sclerosis & frontotemporal degeneration, , pp. 1-7.

ANTOINE, M., PATRICK, K.L., SORET, J., DUC, P., RAGE, F., CACCIOTTOLO, R., NISSEN, K.E., CAUCHI, R.J., KROGAN, N.J., GUTHRIE, C., GACHET, Y. and BORDONNE, R., 2020. Splicing Defects of the Profilin Gene Alter Actin Dynamics in an S. pombe SMN Mutant. iScience, 23(1), pp. 100809.

CACCIOTTOLO, R., CIANTAR, J., LANFRANCO, M., BORG, R.M., VASSALLO, N., BORDONNE, R. and CAUCHI, R.J., 2019. SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1. Scientific reports, 9(1), pp. 18666-019-53508-4.

AQUILINA, B. and CAUCHI, R.J., 2018. Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy. Journal of neuroscience methods, 310, pp. 3-11.

CURMI, F. and CAUCHI, R.J., 2018. The multiple lives of DEAD-box RNA helicase DP103/DDX20/Gemin3. Biochemical Society transactions, 46(2), pp. 329-341.

BRIFFA, M., GHIO, S., NEUNER, J., GAUCI, A.J., CACCIOTTOLO, R., MARCHAL, C., CARUANA, M., CULLIN, C., VASSALLO, N. and CAUCHI, R.J., 2017. Extracts from two ubiquitous Mediterranean plants ameliorate cellular and animal models of neurodegenerative proteinopathies. Neuroscience letters, 638, pp. 12-20.

LANFRANCO, M., CACCIOTTOLO, R., BORG, R.M., VASSALLO, N., JUGE, F., BORDONNE, R. and CAUCHI, R.J., 2017. Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation. FEBS letters, 591(21), pp. 3600-3614.

LANFRANCO, M., VASSALLO, N. and CAUCHI, R.J., 2017. Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction. Frontiers in molecular biosciences, 4, pp. 41.

BORG, R.M., FENECH SALERNO, B., VASSALLO, N., BORDONNE, R. and CAUCHI, R.J., 2016. Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy. Neurobiology of disease, 94, pp. 245-258.

CARUANA, M., CAUCHI, R. and VASSALLO, N., 2016. Putative Role of Red Wine Polyphenols against Brain Pathology in Alzheimer's and Parkinson's Disease. Frontiers in nutrition, 3, pp. 31.

BORG, R.M., BORDONNE, R., VASSALLO, N. and CAUCHI, R.J., 2015. Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila. PloS one, 10(6), pp. e0130974.

BORG, R. and CAUCHI, R.J., 2014. GEMINs: potential therapeutic targets for spinal muscular atrophy? Frontiers in neuroscience, 8, pp. 325.

CAUCHI, R.J., 2014. Gem Depletion: Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy Crossover. CNS Neurosci Ther., 20(7), pp. 574-581.

BORG, R. and CAUCHI, R.J., 2013. The Gemin Associates of Survival Motor Neuron Are Required for Motor Function in. PloS one, 8(12), pp. e83878.

CAUCHI, R.J., ed, 2013. Drosophila melanogaster Models of Motor Neuron Disease. New York: Nova Biomedical.

CAUCHI, R.J., 2010. SMN and Gemins: 'we are family' ... or are we? Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN. Bioessays., 32(12), pp. 1077-1089.

CAUCHI, R.J., SANCHEZ-PULIDO, L. and LIU, J.L., 2010. Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies. Exp Cell Res., 316(14), pp. 2354-2364.

CAUCHI, R.J., DAVIES, K.E. and LIU, J.L., 2008. A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet., 4(11), pp. e1000265.

LEE, S., SAYIN, A., CAUCHI, R.J., GRICE, S., BURDETT, H., BABAN, D. and VAN DEN HEUVEL, M., 2008. Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets. PLoS One, 3(1), pp. e1404.

CAUCHI, R.J. and VAN DEN HEUVEL, M., 2006. The fly as a model for neurodegenerative diseases: is it worth the jump? Neurodegener Dis., 3(6), pp. 338-356.