ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria

Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000. RDs are complex and often need special treatments, thus combined efforts are required to address them to improve diagnosis, care and prevention. To date, over 6.000 RDs are known and most of them are \"orphans\". They do not have a market large enough to gather support to sustain research and discover treatments. Most RDs are disabling, incurable, painful and cause great suffering. Their complexity and heterogeneity often make diagnosis difficult; 25% of RD patients experience a diagnostic delay of 5 to 30 years and this has important implications for patient care. Thus, new diagnostic and therapeutic strategies are urgently needed. RDs registries are increasingly recognized as an effective tool to advanc