In search of ALS-causing genes

In search of ALS-causing genes
March 2022 Vanessa Attard

In search of ALS-causing genes
Rebecca Borg graduates PhD into Motor Neuron Diseases

 

Rebecca Borg has worked as a Senior Scientist at the Molecular Diagnostics laboratory, Mater Dei Hospital, for almost seven years. She holds a BSc (Hons) in Applied Biomedical Science and an MSc in Biochemistry, during which she collaborated with the prestigious CNRS/Institute of Molecular Genetics in Montpellier, France. She is the first recipient of the Bjorn Formosa Advanced Scholarship into Amyotrophic Lateral Sclerosis (ALS)/Motor Neuron Disease, a PhD supported by a partnership between RIDT and ALS Malta Foundation.

Dr. Borg’s PhD research has been a valuable opportunity to decipher the mechanisms that are central to the physiology and survival of the motor system, which for some reason are being set off course by such devastating disorders. The knowledge gained can inform on potential disease ‘hotspots’, which may serve as drug targets, with the aim of developing effective treatments.

So far, evidence with respect to the Maltese ALS cohort has highlighted a different genetic architecture when compared to that of neighbouring European countries. This accentuates the need for personalised medicine therapy for these patients. To single out potential therapeutic targets for tailor-made treatment strategies, it is crucial to identify ALS-linked genes that are exclusive to Maltese patients and understand their contribution to disease pathogenesis.