In Europe, rare diseases are those that affect fewer than 5 in 10,000 of the general population. About 7,000 rare diseases are known, but the amount of epidemiological data is low. They represent a wide range of diseases that are typically chronic and cause a disability, have a high morbidity and mortality rate, and for which in general there are few and not very effective therapeutic resources.
In this context, the Basque Biobank collects samples from medical care or research projects, and focuses especially on samples of high biological value for rare disease research. Furthermore, the Basque Biobank works with the Basque Regional Government's Rare Disease Register (for more information on the Register see DECREE 473/2013, of 30 December), collecting biological samples from patients who consent to donating after being included in the register.
The list of rare diseases includes all the samples that the Basque Biobank holds and which are available to researchers upon request.