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 CNAG will 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.
Participation to the symposium is free of charge, but REGISTRATION IS REQUIRED since it is limited to 150 participants.
Rafael Artuch, Sant Joan de Deu Hospital, Barcelona
Carmen Ayuso, Carmen Ayuso, 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
Antònia Ribes, Hospital Clínic, Barcelona
Peter Robinson, Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin
Tomasz Zemojtel, Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin