On the occasion of World Rare Disease Day, the University of Malta’s Rare Disease Medicine Study Group, together with the National Alliance for Rare Diseases Support—Malta, held the 9th edition of the Annual Rare Disease Colloquium, titled ‘Advanced Projects in Rare Disease Medicine’. The colloquium aimed to create awareness about the 6,000+ identified rare diseases and the reality of living with them.
Hosted by the President of Malta, His Excellency Dr George Vella at San Anton, and in the presence of Malta’s Minister for Health and Active Ageing, Hon. Dr Jo Etienne Abela, a number of medical experts, researchers, patient advocates, policy makers and industry representatives convened to exchange their invaluable insights with the rare disease community.
In his opening remarks, Prof. Alex Felice, from the University’s Faculty of Medicine & Surgery, spoke about the fact that some rare diseases are disproportionately high in the Maltese population, and that through whole genome sequencing, these could be detected and diagnosed at birth and treated immediately to prevent severe disability.
Speaker Dr Petros Kountouris, from the Cyprus Institute of Neurology and Genetics, talked about haemoglobinopathies, the global spread of which has increased due to growing population movements.
Dr James Clark, from the Office of the Medical Director at Mater Dei Hospital, said Malta joined the 24 European Reference Networks (ERNs) as a National Coordination Hub in 2019 and this affiliation has proved to be a significant asset for our healthcare providers and patients alike in addressing the challenges posed by rare diseases.
Dr Joanna Vella from UM’s Department of Pathology explained mitochondrial diseases and the ongoing research to identify their cause.
Dr Miriam Dalmas from the Department of Policy in Health, from the Ministry for Health and Active Ageing focused on the ‘1+ Million Genomes’; (1+MG) initiative which aspires to allow protected access to genomics and the related clinical data across Europe for the purposes of engendering better research resulting in more personalised healthcare and corresponding health policy-making.
UM academic, Prof. Jean Calleja-Agius, from the Department of Anatomy, Faculty of Medicine and Surgery, briefed the audience about GYNOCARE, which aims to bridge the gap between research and cure in rare gynaecological cancers, and Prof. Constantinos Deltas from the University of Cyprus delivered a talk called ‘The Biobank of Cyprus and Opportunities for Next Generation Research Projects’.
Before the Colloquium, the organisers of the event met with the President of Malta, Dr George Vella, and Mrs Michelle Muscat, the Chairperson of the National Alliance for Rare Diseases Support - Malta.
More information about the event and the biographies of its speakers can be found online.
