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

Life and Earth Sciences | Barcelona, October 26th and 27th, 2017

Program

Coordinators:  
Ana Ripoll

Universitat Autònoma de Barcelona (UAB).
Bioinformatics Barcelona (BIB).

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

Thursday, 26

9:30 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
Chair:
Mabel Loza
Universidad de Santiago de Compostela.

 
10:00 Big data, utilities and opportunities.
Julian Isla 
Dravet Syndrome Foundation. Fundación 29. Madrid.

 
10:40 Breaking the barriers of big data sharing within RD-Connect and beyond.
Sergi Beltran
Bioinformatics Analysis CNAG-CRG, Barcelona
 

11:10 Break

11:30 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
Chair:
Eduardo Tizzano
Hospital Universitari Vall d'Hebron, CIBERER, Barcelona.

12:10 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.
 

12:50 From genetics to clinic, the role of big data.
Eric Vilain
Children's Research Institute (CRI). Washington DC, USA.
 

14:00 Break

 
SESSION III: THE PATIENTS' PERSPECTIVE
Chair:
Eugenia Resmini
Universitat Autònoma de Barcelona, CIBERER, Hospital de Sant Pau.

16:00 Personalized nutrition in rare diseases, the role of big data.
José María Ordovás
Tufts University, Boston, USA.
 

16:40 Neuropsicología and big data.
Joan Guardia
Instituto de Neurocièncias. UB Institute of Complex Systems.
Facultat de Psicologia Universitat de Barcelona (UB).
 

17:20 Rare Connect, connecting globally patients with rare diseases.
Denis Costello
Rare Connect, EURORDIS, Barcelona.
 

18:00 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
Chair:
Jordi Quintana
Bioinformatics Barcelona.

9:00 What big data can offer to rare diseases?
Bruno Sánchez Andrade
Independent Expert Advisory on Big Data.
 

9:40 Telethon, an example of solidarity in the investigation of rare diseases.
Leopoldo Laricchia Robbio
Fondazione Telethon, Milan, Italia.
Associazione Ricercatori Italiani in Spagna (ARIS).

10:20 Break

 
10:40 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.

 
11:20 Combined efforts to develop personalized medicine programs.
Jaume Reventos 
Generalitat de Catalunya, Barcelona.
 

12:00 Round table: how to join forces to work with big data and rare diseases
Chair:
Francesc Palau
Hospital Sant Joan de Deu and CIBERER, Barcelona.
 

12:00 The role of patients.
Jordi Cruz
Federación Española de Enfermedades Raras (FEDER), Cataluña.

 
12:20 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).

   
13:00 The role of business.
Walter Sanseverino
Sequentia Biotech, Barcelona.

 
13:20 The role of pharmacologists.
Caridad Pontes 
CatSalut, Barcelona.

 
14:00 Final discussion and closing.

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