On 29th October 2015 the 4th CNAG Symposium on Genome Research - Rare Diseases (the 2nd CNAG Symposium on Rare Diseases) took place in the Aula Magna of Fundación Jiménez Díaz in Madrid. The Symposium was coorganized by the Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz (IIS- FJD) and the CNAG-CRG with the collaboration from Ciberer and the sponsorship of Illumina.

The event, with 110 participants, spread the latest ideas and research discoveries through speakers such as Margarita Lopez Trascasa (Hospital la Paz, Madrid), Milan Macek (Charles University, Prague), Ana Osorio Cabrero (Centro Nacional de Investigaciones Oncológicas, Madrid) and Montserrat Baiget (Hospital de la Santa Creu i Sant Pau) among others. Presentations covered many different forms of rare diseases.

The meeting started with the opening by Ivo Gut (Director of the CNAG-CRG), Jesús Fernández Crespo (Director of the ISCIII) and Carmen Ayuso (Head of Research Area and Chief of Clinical Genetics Department of the IIS-FJD) and ended with Sergi Beltran (Head of the Bioinformatics Analysis Unit of the CNAG-CRG), who explained the integration of resources and data sharing for rare disease research and diagnosis, a crucial point in our world of "Big Data".

Background and future prospects

There are more than 7500 rare diseases (rare disease is defined as affecting less than 1 in 2000 people in the general population). However, across all, 12% of the population is affected by a rare disease. Considering the high interest in this research area and its increasing relevance to society, the CNAG-CRG will be organizing further events on rare diseases.As Carmen Espinos nicely phrased it at the 4th CNAG Symposium, we are sure that in the diagnosis of rare diseases, clinicians and geneticists need to work together.