3rd CNAG Symposium on Genome Research: Rare Diseases


26th February 2015 – Auditori Antoni Caparrós
Tower D - Barcelona Science Park
Baldiri Reixac, 4 – 08028 Barcelona


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 we want to bring together scientists of different fields who have carried out rare diseases analysis projects in collaboration with the CNAG and who will present their latest research discoveries and ideas.

During the Symposium, participants can visit Menys Rares, an exhibition on the research in rare diseases organized by the Associació Catalana de Comunicació Científica and supported by the CNAG and the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). The exhibition will stay at the lobby of the Edifici Torres of the PCB until March 2015.


Participation to the symposium is free of charge, but REGISTRATION IS REQUIRED since it is limited to 150 participants.


Confirmed Speakers


Rafael Artuch, (CIBERER), Sant Joan de Déu Hospital, Barcelona
Carmen Ayuso, (CIBERER), IIS- Hospital Universitario Fundación Jiménez Díaz, Madrid
Sergi Beltran, CNAG, Barcelona
Anne Bowcock, Imperial College, London
Sergi Castellví, Hospital Clínic, Barcelona
Conxi Lázaro, IDIBELL, Barcelona
Alfons Macaya, Vall d’Hebron Research Institut, Barcelona
Judith Melki, INSERM, Paris
Arcadi Navarro, Universitat Pompeu Fabra, Barcelona
Antònia Ribes, (CIBERER), Hospital Clínic, Barcelona
Peter Robinson, Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin
Tomasz Zemojtel, Labor Berlin and Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin





Organised by:


With the sponsorship of:





Members of the Board: