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International platforms for biomedical research: A focus on rare diseases

Life and Matter Sciences International Symposium November 3-4, 2016 Madrid

General information

Venue: Fundación Ramón Areces, Vitruvio, 5. 28006. Madrid
Limited capacity

  • Free registration

Organized by:

Fundación Ramón Areces

In cooperation with:



Isabel Varela-NietoInstituto de Investigaciones Biomédicas "Alberto Sols" (IIBM). CSIC-UAM-CIBERER. Madrid


Deputy Coordinators:
Joaquín Dopazo
Centro de Investigación Príncipe Felipe-BiER platform. CIBERER. Valencia. Spain


José Mª MillánInstituto de Investigación Sanitaria Hospital La Fe. CIBERER. Valencia. Spain


Francisca SánchezFacultad de Ciencias. Universidad de Málaga. CIBERER. Spain

  • Description
  • Programme

Biomedical research is the basis for providing new tools for the diagnosis and treatment of rare diseases. There are around eight thousand rare diseases, each of them with a maximal prevalence of one case per 2,000 inhabitants. In this context, the availability of homogenous, detailed scientific information, and accessible to the patient, is essential to define the spectrum of action of basic researchers and clinicians. This is the service that Orphanet offers in the field of rare diseases. Open access and documentation initiatives, especially those that expand the field and go to the patient as a Europe PMC, made valuable contributions to the advancement of public awareness. In parallel, the role of biobanks in the storage of samples from rare disease patients increases the opportunities for genetic research.

The development and study of animal models of human diseases has a central role in the field of rare diseases. The characterization of the genome of different species and the phenotyping of rare disease animal models contributes to the study of the physiopathology, the understanding of the molecular mechanisms underlying, to identify diagnostic criteria and to the evaluation and refinement of new therapies. Since the majority of rare diseases present a complex syndromic nature, it is necessary to offer a range of specialized tests able to evaluate the function of different organs.

The generation of genome, transcriptome and proteome data contributes to clarify the biological processes and mechanisms of disease, as well as to the clinical and pharmacogenetic evaluation of patients. Massive analysis of these data together with the increasingly growing genomic Big Data already existent in databases, in particular in the case of rare diseases, facilitates valuable information that requires the development and use of programs and bioinformatic platforms as ELIXIR.

This symposium seeks to the interaction between members of national and international platforms of information, biobanks, bioinformatics and phenotyping of genetically engineered mice. The evolution of technology and of the resources available in these areas is on-going and accelerated, so the symposium offers a unique educational opportunity for early stage researchers.

Thursday, 3



Federico Mayor Zaragoza 
Chairman of the Scientific Council. Fundación Ramón Areces. 

José María Medina  
Deputy Chairman fo the Scientific Council. Fundación Ramón Areces. 

Isabel Varela-Nieto

Joaquín Dopazo
José Mª Millán
Francisca Sánchez 

Deputy Coordinators. 

SESSION 1: Mouse phenotyping, archiving and generation platforms


Silvia Murillo-Cuesta 
Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM). CSIC-UAM- CIBERER. Madrid. Spain. 


Analysis of mammalian gene function though broad-based phenotypic screens across a consortium of "Mouse Clinics"

Martin Hrabě de Angelis
Institute of Experimental Genetics. Múnich. Germany. 


Morphological phenotyping: Clues to ameliorate translability from mouse to human

Jesús Ruberte
Center for Animal Biotechnology and Gene Therapy. Universidad Autónoma de Barcelona. CIBERDEM. Spain




The historical role of Jackson labs in mouse research

Karen Svenson
Jackson Laboratories. USA.


The importance of mouse archiving in biomedical research

Lluís Montoliu
Centro Nacional de Biotecnología (CNB). CSIC-CIBERER. Madrid. Spain. 


SEFALer: a CIBERER integrative initiative for the phenotyping of rare disease mouse models

Isabel Varela-Nieto
Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM). CSIC-UAM-CIBERER. Madrid.  Spain. 



SESSION 2: Generation and analysis of genome and proteome data


Francisca Sánchez 

Facultad de Ciencias. Universidad de Málaga. CIBERER. Spain. 


The change of concept in the definition of disease: from common diseases to rare diseases

Ángel Carracedo
Universidad de Santiago de Compostela. CIBERER. Spain.


The importance of Proteomics platforms in biomedical research

Concha Gil
Parque Científico y Facultad de Farmacia. Universidad Complutense. Madrid. Spain.


Repositive.io: a Discovery and Data Access Platform for Human Genomics Datasets

Manuel Corpas
Wellcome Trust Sanger Institute. Cambridge. UK.


Translational applications of genomic, phenotypic and functional data integration tools

Juan Antonio García Ranea
Universidad de Málaga. CIBERER.  Spain.

Friday, 4

SESSION 3: Rare diseases in health information systems and biobanking


José Mª Millán 
Instituto de Investigación Sanitaria Hospital La Fe. CIBERER. Valencia. Spain.  


An introduction to ORPHANET

Martín Arlés
Orphanet Rare disease platform. Paris. France. 


Europe PMC: a database of open access research articles

Jo McEntyre
European Bioinformatics Institute. EMBL-EBI. European Molecular Biology Laboratory.
Wellcome Trust Genome Campus. Cambridge. UK.


BBMRI: Biobanking and biomolecular resources research infrastructure

Luca Sangiorgi
Medical Genetic Department. Rizzoli Orthopaedic Institute. Bologna. Italy.  


The Spanish Biobank Network

Manuel Morente
Unidad de Banco de Tumores. Centro Nacional de Investigaciones Oncológicas (CNIO). Instituto de Salud Carlos III. Madrid. Spain. 



SESSION 4: The bioinformatic platforms in the study of rare diseases


Lluís Montoliu 
Centro Nacional de Biotecnología (CNB). CSIC-CIBERER. Madrid. Spain.  


CIBERER platforms and INB-ELIXIR-es

Joaquín Dopazo
Centro de Investigación Príncipe Felipe-BiER platform. CIBERER e INB-ELIXIR-es. Valencia. Spain.


ELIXIR-EXCELERATE work packages: a Rare Disease use case

Marco Roos
Biosemantics group, Human Genetics Department. Leiden University Medical Centre. The Netherlands. 


Platform for genome interpretation in the Uk´s 100,000 genomes project

Augusto Rendon
Genomics England. Queen Mary University of London. UK.


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