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Organization Chart of the CIBERER

Organization Chart of the CIBERER. Governing Board. External Advisory Scientific Committee. Permanent Commission. Scientific Director. Management Committee ( Coordinators ). Management Office. Associated Clinical Groups. Research Programmes : Thematic Medical Programmes.

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Organization Chart of the CIBERER

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  1. Organization Chart of the CIBERER Governing Board External Advisory Scientific Committee Permanent Commission Scientific Director ManagementCommittee (Coordinators) Management Office Associated Clinical Groups ResearchProgrammes: ThematicMedicalProgrammes Paediatric and Developmental Medicine Neuro-sensorial Pathology Inherited Cancer and Related Syndromes Genetic Medicine InheritedMetabolic Medicine Mitochondrial Medicine Endocrine Medicine Intramural Biomedical Projects in Rare Diseases (PIBER) Intramural Projects and Support Platforms Support Platforms for Research into Rare Diseases (PITER)

  2. Cooperative research in the field of rare diseases CIBERER units are organized into seven Research Programmes:

  3. Internal Structure of CIBERER • 60 Research Groups 29 Consorted Institutions 7 Research Programmes • The centre encloses clinical and basic researchers promoting Cooperative Research in Rare Diseases. • It is a Centre with an innovative network structure: offers opportunities of research actions and public-private collaboration. • The knowledge generated is translated from the laboratory to clinical practice • Translational Research

  4. Cooperative research in the field of rare diseases • During its 5 years of existence, the CIBERER has allowed increasing the research capacity of its scientific groups and has increased the knowledge about Rare Diseases. CIBERER Programmes have: • Joined and increased the Cooperation between basic and clinical units • Increased the Research on Rare Diseases • Fostered the Participationof groups in the CIBERER’s programmes • Established Institutional Relations • Promotedand Disseminated the activities of groups • Fostered the International Cooperation opportunities of groups BIER BioInformatica de Enfermedades Raras Network core facilities

  5. CIBERER´s therapeutic research • Examples of intramural cooperative research projects • Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells. Raya et al. CIBERER Units 710 & 745. Nature. 2009 May 31 • Transplantation of histocompatible allogeneic epidermal stem cells: Development of an effective clinical resource for patients with dystrophic epidermolysis bullosa. • INTRA/08/714,1. • Gene therapy in Dyskeratosis congenita • INTRA/08/757,1. CIBERER Units 757 & 710 • Evaluation of the immune response and oxidative stress in patients affected by Gaucher disease subjected to different forms of therapeutic treatment. • INTRA/08/752.2. CIBERER Units 752 & 719 Cooperation with the Spanish Biotech Stakeholders Association (ASEBIO) Collaboration with specific preclinical research actors Agreement with Medina Foundation: non-profit public–private partnership between Merck Sharp and Dohme and public institutions focused on the discovery of new compounds and innovative therapies for unmet medical needs CIBERER member of Innovative Medicaments working group

  6. Experimental models in rare diseases: towards preclinical research • The approach is to establish scientific collaborations with experts from others academic research groups, biotech and pharmaceutical companies interested in testing their compounds and their panels of target screens in specific rare diseases models. • CIBERER experimental models network resources: • 91 animal models for the study of rare diseases: • Mouse, Zebrafish, Drosophila, Medaka, C. elegans. • 59 cells models for the study of rare diseases: • HeLa, 3T3, SH-S5SY neuroblastoma cells, fibroblasts, COS cells, lymphoblast cells, astrocytes… • Example of animal models: • McArdledisease (Pygm) • X-linkedadrenoleukodystrophy (Abcd1) • Charcot-Marie-Toothtype 4A (Gdap1) • Retinitis pigmentosa(Cerkl) • Down syndrome(Dyrk1a, others) • Laforadisease(malin, laforine) • Etc.

  7. 2007 -2011: an increase of the scientific collaboration and productivity by the CIBERER groups Evolution of intramural collaboration - CIBERER 2000-02 and 2006-08

  8. 2007 -2011: an increase of the scientific collaboration and productivity by the CIBERER groups Intramural collaboration – CIBERER 2010

  9. 2007 -2011: an increase of the scientific collaboration and productivity by the CIBERER groups Collaborative network of CIBERER groups with other Spanish institutions (240) Collaborative network of CIBERER groups with other international institutions (742)

  10. Outcomes: increase on the number and quality of papers in RD Publications output between 2005 - 2010

  11. Outcomes: increase on the number and quality of papers in RD Evolution of the papers distribution of CIBERER groups based on JIF (Journal Impact Factor) parameters

  12. “A model of Cooperative Research on Rare Diseases” GoraibhmaithagatThankyou More Information: www.ciberer.es info@ciberer.es (+34) 96.339.47.89

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