These were three intense days of sharing knowledge, experience and good practices in addressing rare diseases around the world. The 13th UCAM International Conference on Rare Diseases, organised by D’Genes and UCAM Universidad Católica San Antonio de Murcia, finally brought together more than 1,000 participants who followed closely online the speeches of 50 speakers with a wide experience in rare diseases. The event has been followed in Latin America, the United States and European countries such as France, Italy and Russia, as well as Spain.

This year’s event brought together representatives of the associative movement from more than 60 entities. For Juan Carrión, president of D’Genes, the support of the associations is indispensable “since they reach where the administration cannot”.

Three key areas in the field of rare diseases were addressed during the congress: diagnosis, accessibility to medicines and research. The average time to achieve a diagnosis in Spain is 4 years, which is why the achievement of an early diagnosis is one of the great demands made by those who defend the interests of patients with rare diseases. “Some people die before finding the diagnosis”, says Juan Carrión, who points out that “Spain is the only European country that does not have a clinical genetics speciality”. Another priority is to adapt the criteria for access to medicines so that their availability is equitable. Only 5% of known rare diseases can be treated and in Spain there is access to only 50% of the medicines authorised and marketed in Europe.

Research is the great hope for the more than three million people in the world affected by a rare disease. It is necessary to increase investment in this area, as Juan Carrión claims. “While Spain invests 1.2% of its GDP, the European average is 2.12%, and there are countries like Sweden that invest 3%”. In this regard, the President of D’Genes highlighted the commitment of UCAM and its President, José Luis Mendoza, to science. “UCAM Universidad Católica San Antonio de Murcia has invested more than 230 million euros in research”.