Prof. Ruben J Cauchi from the Department of Physiology and Biochemistry and the Centre for Molecular Medicine and Biobanking delivered an invited lecture at the Cyprus Institute of Neurology and Genetics (CING) in Cyprus.
CING is a renowned national, regional, and international centre for clinical and research excellence on rare and common neurological or neuromuscular diseases including amyotrophic lateral sclerosis (ALS), Charcot -Marie-Tooth disease, Parkinson’s disease, Alzheimer’s disease, Huntington’s disease, multiple sclerosis, ataxias, epilepsy, stroke, myotonic dystrophies, muscular dystrophies, peripheral neuropathies and neurodevelopmental conditions. Established more than three decades ago, CING is a unique model combining clinical services, multidisciplinary care, research activities and education in one centre, with benefits to patients and society.
At CING, Prof. Cauchi presented the latest advances on ALS epidemiology and genetics in Malta based on ongoing research by the Motor Neuron Disease Laboratory at the University of Malta. Genetic risk for ALS, a fatal progressive motor neuron degenerative disease, is highly elevated in islands like Malta and Cyprus. The genetic architecture of ALS in both Maltese and Greek Cypriots was found to be different than that of continental Europe.
Prof. Cauchi underscored the unique opportunity offered by island populations to discover novel genetic factors that trigger ALS. To this end, Prof. Cauchi presented unpublished evidence on top -ranking ALS gene candidates identified in Maltese ALS patients by a gene prioritisation pipeline developed by his lab. The drastic change in population structure that has occurred in both Malta and Cyprus since joining the EU, two decades ago, is altering the genetic pool of both populations. Against this backdrop, Prof. Cauchi concluded that gene mapping studies that rely on the genomic insularity of island populations are essentially a race against time.
Prof. Cauchi also acts as an ad hoc external examiner for the CING PhD programme in neuroscience.