Rare Disease Day aims to raise awareness for patients, families and carers worldwide affected by rare diseases. A rare disease celebration will be held in person on Feb 10th 2023 at the Faculty of Medicine and Biomedical Sciences, Univeristy of Algarve. An informal chat will be held in Portuguese to discuss how the field of rare diseases can advance through the joint efforts of scientists, patient associations and clinicians. We are honoured to receive Dr Maria João Leão, Coordinator of the Citizen Science and Active Citizenship Program and Dr Célia Azevedo Soares, a medical geneticist. The event is open to all but aimed at patient associations, clinicians and scientists in the field. The round table will be moderated by Sara Carvalhal, group leader of Chromosome Segregation in Disease Lab which aims to unveil the biology of rare syndromes.