A rare disease is any disease that affects a small percentage of the population, however a high percentage of population can be involved, in fact the World Health Organization (WHO) consider 7000 rare diseases, affecting 7% of the population. Three million people with rare disease are estimated in Spain.

The principal challenges regarding rare diseases nowadays include:

The difficulty in clinical and molecular diagnosis.
A specific clinical multidisciplinary management due to heterogeneity of the diseases.
Persistent comorbidities, physical and cognitive after cure of the disease.
Effective and safe therapies that can cure the disease and delay comorbidities, improving long-term prognosis.

The volume data on rare diseases has grown steadily in recent years, for this reason it needs a specific technology to handle them. This symposium will focus on diagnostic and therapeutic advances in relation to rare diseases and big data and will allow interaction between national and international experts on the subject. The proposed topics, as well as invited speakers, are relevant internationally and are aimed at improving the final prognosis and quality of life of patients with rare diseases through the technology offered by big data. One of the aims of the symposium is also creating a working group that will aim to find new drugs for rare diseases.

The symposium will cover the state of the art in the clinical management of these diseases, as well as current research and future perspectives, including pathogenesis, epidemiology, therapeutic novelties, long-term prognosis with residual morbidity, quality of life and drug-economic aspects in the management of these diseases. Its main objective will be to transmit to society the advantages and opportunities offered by big data technology to advance the diagnosis and design of new drugs that benefit the patient.

The access to the symposium will be free and there will also be present patients' associations, students, general population, research centers, nurses, and universities, making it more interactive and educational.

International Symposium: Rare diseases and big data, from research to clinical practise

Free registration: fill out the registration form before 26 October 2017
Dates: 26-27 October 2017
Venue: CosmoCaixa Sala Àgora (C/ Isaac Newton 26, Barcelona, Spain)
Organizers: Bioinformatics Barcelona Association (BIB) and Fundación Ramon Areces
With the collaboration of: "la Caixa" Foundation and CIBERER