A Collective Commitment to Rare Diseases in Malta

Approximately 30,000 people in Malta are living with a rare disease, each with a personal journey that reflects resilience, determination, and the need for stronger national support.

Their stories were brought to the forefront during the National Conference on Rare Diseases: Together Through the Uncommon, a significant gathering that united patients, families, healthcare professionals, researchers, and policymakers.

The conference was organised through a collaboration between the National Alliance for Rare Diseases Support – Malta, the Ministry for Health, and the University of Malta, highlighting a shared national commitment to improving the lives of those affected by rare conditions.

During the event, the Minister for Health, Jo Etienne Abela, announced the launch of a public consultation on Malta’s first National Rare Disease Strategy. This important development marks a major step forward in strengthening policy, enhancing access to diagnosis and treatment, investing in research, and ensuring more comprehensive patient support structures.

The conference,, which UM's Pro-Rector for Research and Knowledge Transfer, Prof. Ing. Simon G. Fabri delivered the opening address for, also celebrated the 10-year anniversary of the National Alliance for Rare Diseases Support – Malta, recognising a decade of advocacy and unwavering dedication to building a stronger community for individuals and families navigating rare diseases.

As part of the programme, the 11th Rare Disease Colloquium was held under the auspices of Her Excellency the President of Malta, underscoring the national significance of the initiative. The University of Malta hosted a series of scientific presentations that showcased the country’s growing expertise in rare disease research.

Opening remarks were delivered by Dr Joanna Vella from the Department of Pathology, setting the stage for discussions on pioneering work in gene editing and its clinical applications, cardiomyopathy and channelopathy research in Malta, Maltese corneal dystrophy gene variants and potential therapeutic strategies, rare genetic mutations linked to Parkinson’s disease, advances from the Malta ALS/MND Research Programme, research into rare epilepsy syndromes, and genomic and functional modelling studies on early-onset osteoporosis. These presentations reflected both scientific innovation and a clear commitment to translating research into tangible patient benefit.

The conference was held in the lead-up to Rare Disease Day on 28 February, a global observance dedicated to raising awareness and driving change for the 300 million people worldwide living with a rare disease, as well as their families and carers.

Together, these efforts signal a growing momentum in Malta to move beyond awareness and toward coordinated, meaningful action that ensures no one affected by a rare disease feels overlooked or unsupported.