News & Events
November 3-4, 2016 - Madrid, Spain
International platforms for biomedical research: A focus on rare diseases

[Spanish] This symposium seeks to the interaction between members of national and international platforms of information, biobanks, bioinformatics and phenotyping of genetically engineered mice

Coordinator:
Isabel Varela-Nieto (Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM-CIBERER, Madrid, Spain)

Deputy Coordinators:
Joaquín Dopado (Centro de Investigación Príncipe Felipe-BiER platform, CIBERER, Valencia, Spain).
José Mª Millán (Instituto de Investigación Sanitaria Hospital La Fe, CIBERER, Valencia, Spain).
Francisca Sánchez (Facultad de Ciencias, Universidad de Málaga, CIBERER, Spain).

Thursday, 3
WELCOME
  • 9:30 Isabel Varela-Nieto (Coordinator), Joaquín Dopazo, José Mª Millán and Francisca Sánchez (Deputy Coordinators).
[SESSION 1] MOUSE PHENOTYPING, ARCHIVING AND GENERATION PLATFORMS

Chairwoman: Silvia Murillo-Cuesta (Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM- CIBERER, Madrid, Spain)

  • 10:00 Analysis of mammalian gene function though broad-based phenotypic screens across a consortium of “Mouse Clinics”
    Martin Hrabe de Angelis (Institute of Experimental Genetics. Munich. Germany)
  • 11:00 Spanish contribution to international mouse research platforms
    Jesús Ruberte (Center of Animal Biotechnology and Gene Therapy, Universidad Autónoma de Barcelona, CIBERDEM, Spain)
  • 11:30 Break
  • 12:00 The historical role of Jackson labs in mouse research
    Karen Svenson (Jackson Laboratories.USA)
  • 13:00 The importance of mouse archiving in biomedical research
    Lluís Montoliu (Centro Nacional de Biotecnología (CNB).CSIC-CIBERER. Madrid. Spain)
  • 13:30 SEFALer: a CIBERER integrative initiative for the phenotyping of rare disease mouse models
    Isabel Varela-Nieto (Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM-CIBERER, Madrid, Spain)
  • 14:00 Break
[SESSION 2] GENERATION AND ANALYSIS OF GENOME AND PROTEOME DATA

Chairwoman: Francisca Sánchez (Facultad de Ciencias, Universidad de Málaga, CIBERER, Spain)

  • 16:00 The change of concept in the definition of disease: from common diseases to rare diseases
    Ángel Carracedo (Universidad de Santiago de Compostela, CIBERER, Spain)
  • 16:30 The importance of Proteomics platforms in biomedical research
    Concha Gil (Parque Científico y Facultad de Farmacia, Universidad Complutense, Madrid, Spain)
  • 17:00 DECIPHER
    Manuel Corpas (Wellcome Trust Sanger Institute, Cambridge, UK)
  • 17:30 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

Chairman: José Mª Millán (Instituto de Investigación Sanitaria Hospital La Fe, CIBERER, Valencia, Spain)

  • 9:30 An introduction to ORPHANET
    Ana Rath (Orphanet Rare disease platform. Paris. France)
  • 10:00 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)
  • 10:30 BBMRI: Biobanking and biomolecular resources research infrastructure
    Luca Sangiorgi (Medical Genetic Department. Rizzoli Orthopaedic Institute. Bologna. Italy)
  • 11:00 The Spanish Biobank Network
    Manuel Morente (Unidad de Banco de Tumores. Centro Nacional de Investigaciones Oncológicas (CNIO) Instituto de Salud Carlos III. Madrid. Spain)
  • 11:30 Break
[SESSION 4] THE BIOINFORMATIC PLATFORMS IN THE STUDY OF RARE DISEASES

Chairman: Lluís Montoliu (Centro Nacional de Biotecnología, CNB, CSIC-CIBERER, Madrid, Spain)

  • 12:00 CIBERER platforms
    Joaquín Dopado (Centro de Investigación Príncipe Felipe-BiER platform. CIBERER. Valencia. Spain)
  • 12:30 ELIXIR-EXCELERATE work packages: a Rare Disease use case
    Marco Roos (Informatics Institute of the Faculty of Science of the University of Amsterdam. Netherlands)
  • 13:00 Platform for genome interpretation in the Uk´s 100,000 genomes project
    Augusto Rendon (Genomics England. Queen Mary University of London. UK)
  • 13:30 Discussion and closure

 

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