Over 30 million Europeans are affected by one of the known 7,000 rare diseases. Symptoms are usually chronic, degenerative and life-threatening; in fact, 30% of patients die before their 5th birthday and there is no effective treatment for the large majority of rare diseases.

Most rare diseases have a genetic origin and are caused by mutations in protein-coding regions, representing a small portion (1–2%) of the human genome. In recent years, Whole Genome and Whole Exome Sequencing technologies have proven to be extremely powerful and cost-effective strategies to identify genetic variants underlying rare Mendelian disorders.

In this symposium, coorganized by the Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz (IIS- FJD) and the CNAG, we want to bring together scientists of different fields who have carried out rare diseases analysis projects and who will present their latest research discoveries and ideas.

It will take place the October 29th at the Aula Magna in the Fundación Jiménez Díaz (Madrid) and participation is free of charge. However, REGISTRATION IS REQUIRED since space is limited.

The opening will be by Jesús Fernández Crespo, director of the Instituto de Salud Carlos III and these are the confirmed Speakers:


  • Julio Escribano, Universidad de Castilla-La Mancha (UCLM), Albacete
  • Diana Valverde, Universidad de Vigo
  • Marina Gago, Instituto de Investigación Sanitaria de Santiago de Compostela
  • Carmen Espinos, Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia
  • Milan Macek, Charles University, Prague
  • Montserrat Baiget, Hospital de la Santa Creu i Sant Pau, Barcelona
  • Margarita Lopez Trascasa, Hospital la Paz, Madrid
  • Ana Osorio Cabrero, Centro Nacional de Investigaciones Oncológicas, Madrid
  • Sergi Beltran, Centro Nacional de Análisis Genómico (CNAG-CRG), Barcelona


With the collaboration of Ciberer and the sponsorship of Illumina