“Whole Genix takes part in the symposium organized by CNAG”.
3rd CNAG Symposium on Genome Research: Rare Diseases 26 th Febreary 2015.
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.