Researcher, Faculty of Medicine and Surgery
Rebecca Borg is a PhD student at the Laboratory of Functional Genetics at the University of Malta and a Medical Laboratory Scientist at the Laboratory of Molecular Diagnostics at Mater Dei Hospital. She holds a BSc (Hons.) in Applied Biomedical Science and an MSc in Biochemistry. Her current research is focused on Motor Neuron Disorders (MNDs). She is the first recipient of the Bjorn Formosa Advanced Scholarship into Amyotrophic Lateral Sclerosis (ALS)/MND. This research is being funded through a partnership between RIDT and the ALS Malta Foundation. Rebecca is determined to decipher the mechanisms that are central to the physiology and survival of the motor system, which for some reason is being perturbed in such devastating disorders.
Research interest: Motor neuron disease (MND) connects an array of neurological disorders that are characterized by degeneration of motor neurons in the brain and spinal cord leading to muscle atrophy. This ultimately progresses with paralysis of the majority of skeletal muscles and motor dysfunction that is invariably fatal. Among a number of known MNDs, the most common genetic cause of infant mortality is Spinal Muscular Atrophy (SMA), whereas the most common motor neuron disorder with an adult onset is Amyotrophic Lateral Sclerosis (ALS). Increasing evidence links these diseases to mutations in ubiquitously expressed genes implicated in several molecular pathways, mainly involving RNA processing. This research project aims at unravelling the genes that form this elusive network through the use of a genetic and biochemical approach in the fly model. In view of the remarkable similarity at a genetic and biological level, the fruit fly Drosophila melanogaster has been successfully used to model a multitude of neurodegenerative disorders thereby revealing novel insights into the pathological mechanisms underpinning these disorders. In addition to identifying the pathway that is key for normal motor function, the identification of novel genes that associate within this pathway through the screening of Maltese patients suffering with motor neuron disorders, will be achieved by setting up the first MND Biobank in Malta. Such genes can potentially serve as novel therapeutic targets.
- BorgRM, Fenech Salerno B, Vassallo N, Bordonne R, Cauchi RJ. 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, Volume 94, 2016, Pages 245-258, ISSN 0969-9961.
- Borg, R.M., Bordonne, R., Vassallo, N. & Cauchi, R.J. 2015, “Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila“, PloS one, vol. 10, no. 6, pp. e0130974.
- BorgR, Cauchi RJ. 2014 “GEMINs: potential therapeutic targets for spinal muscular atrophy?”, Frontiers in Neuroscience, 8, 325. http://doi.org/10.3389/fnins.2014.00325.
- Borg, R. & Cauchi, R.J. 2013, “The Gemin Associates of Survival Motor Neuron Are Required for Motor Functionin Drosophila“, PloS one, vol. 8, no. 12, pp. e83878.