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Two events were recently held to commemorate Rare Disease Day 2020.

The theme for this year was “Where Every Patient Counts”, and as Professor Alex Felice said “Research Counts”.

A Rare Disease refers to a disease or disorder that affects fewer than 1 in 2000 patients (less than 200 Maltese). There are over 6000 rare diseases and 80% are of genetic origin and are often chronic and life-threatening.  

A seminar for community Healthcare Professionals was hosted by His Excellency Dr George Vella, President of Malta, at San Anton Palace.

The seminar was jointly organised by the and the , and .

Ms Michelle Muscat, Chairperson of the Marigold Foundation and President of the National Alliance for Rare Diseases Support Malta opened the seminar while chaired the event.

Professor Felice reviewed the recent development of bio-banking science in Malta and the European Union and introduced an innovative co-operative for Research Partners to share genomes and health data over a long term for gene discovery.

Dr Keith Sacco, Senior Clinical Fellow at the U.S. National Institute of Health, Bethesda, Maryland spoke about Rare immunological disorders and was followed by who spoke on ongoing research about Rare Blood diseases.

Additional presentations were made by: Dr Miriam Dalmas about the European Reference Networks; Dr Miriam Azzopardi about the National Rare Disease Registry and Dr Edith Sciberras about Mental Health in Rare Diseases.

A fund-raising “Rare Pearl Soiree” was held at the Casino Maltese on Rare Disease Day, 29 February. University of Malta Staff and post-graduate students attended. Professor Joseph Borg was honoured for his outstanding research in rare blood diseases by the National Alliance for Rare Diseases Support Malta. The proceeding of the seminar may be seen .