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Rare diseases and big data, from research to clinical practise

Life and Matter Sciences International Symposium October 26 and 27, 2017 Barcelona

General information

Venue: Auditorio CosmoCaixa Isaac Newton, 26 (Sarrià-Sant Gervasi), Barcelona

Organized by:

Fundación Ramón Areces

In cooperation with:

Bioinformatics Barcelona (BIB)


Ana RipollUniversitat Autònoma de Barcelona (UAB). Bioinformatics Barcelona (BIB)


Eugenia ResminiHospital Sant Pau. Universitat Autònoma de Barcelona (UAB). Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). Associazione Ricercatori Italiani in Spagna (ARIS)

  • Description
  • Programme

Arare 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:

  1. The difficulty in clinical and molecular diagnosis
  2. A specific clinical multidisciplinary management due to heterogeneity of the diseases
  3. Persistent comorbidities, physical and cognitive after cure of the disease
  4. 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 need 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.

Thursday, 26


Welcome and introduction

Federico Mayor Zaragoza
Fundación Ramón Areces.

José María Medina 
Fundación Ramón Areces.

Santiago de la Riva
Federación Española de Enfermedades Raras (FEDER).

Pablo Lapunzina
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER).

Jordi Portabella i Calvete 
Scientific Dissemination and CosmoCaixa Area Director. 
"la Caixa" Banking Foundation. 

Ana Ripoll
Eugenia Resmini

Coordinators of the Symposium. 

SESSION I: Opportunities of Big data


Mabel Loza
Universidad de Santiago de Compostela.


Big data, utilities and opportunities

Julian Isla
Dravet Syndrome Foundation. Fundación 29. Madrid.


Breaking the barriers of big data sharing within RD-Connect and beyond

Sergi Beltran
Bioinformatics Analysis CNAG-CRG, Barcelona 




The undiagnosed rare disease program of the CIBERER

Luís A. Pérez Jurado
Universitat Pompeu Fabra (UPF), Barcelona. Instituto de Investigación Hospital del Mar (IMIM). Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER).

SESSION II: Applications of Big data to clinical practise


Eduardo Tizzano
Hospital Universitari Vall d'Hebron, CIBERER, Barcelona.


Experience of the undiagnosed rare disease program of the NIH. Big data with diagnostic utility

David Adams
National Human Genome Research Institute (NHGRI), Washington DC, USA.


From genetics to clinic, the role of big data

Eric Vilain
Children's Research Institute (CRI). Washington DC, USA.



SESSION III: The patients' perspective


Eugenia Resmini
Universitat Autònoma de Barcelona, CIBERER, Hospital de Sant Pau.


Personalized nutrition in rare diseases, the role of big data

José María Ordovás
Tufts University, Boston, USA.


Neuropsychology and Big data

Joan Guardia
Instituto de Neurocièncias. UB Institute of Complex Systems. Facultat de Psicologia Universitat de Barcelona (UB).


Rare Connect, connecting globally patients with rare diseases

Denis Costello
Rare Connect, EURORDIS, Barcelona.


Eating is not just feeding

Jordi Bordas
Escuela de pastelería Jordi Bordas, Viladecans. Barcelona.

Friday, 27

SESSION IV: Big data applications in the pharmacotherapy of rare diseases


Jordi Quintana
Bioinformatics Barcelona.


What big data can offer to rare diseases?

Bruno Sánchez Andrade
Independent Expert Advisory on Big Data.


Telethon, an example of solidarity in the investigation of rare diseases

Leopoldo Laricchia Robbio
Fondazione Telethon, Milan, Italia. Associazione Ricercatori Italiani in Spagna (ARIS).




How to advance in rare disease therapy by means of the big data

Ferran Sanz
Instituto Hospital del Mar de Investigaciones Médicas (IMIM). Universidad Pompeu Fabra, Barcelona.


Combined efforts to develop personalized medicine programs

Jaume Reventos 
Generalitat de Catalunya, Barcelona.


Round table: how to join forces to work with big data and rare diseases

Francesc Palau
Hospital Sant Joan de Deu y CIBERER, Barcelona.


The role of patients

Jordi Cruz
Federación Española de Enfermedades Raras (FEDER), Cataluña.


The role of the interactions between Universities and Hospitals

Jordi Surrallés
Hospital de Sant Pau.Universitat Autònoma de Barcelona. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER).


The role of business

Walter Sanseverino
Sequentia Biotech, Barcelona.


The role of pharmacologists

Caridad Pontes
CatSalut, Barcelona.


Final discussion and closing
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