121 Intramural Biomedical Projects in Rare Diseases (PIBER) Support Platforms for Research into Rare Diseases (PITER) Management Office Scientific Director Governing Board Permanent Commission External Advisory Scientific Committee Management Committee () (Coordinators) Associated Clinical Groups Intramural Projects and Support Platforms Organization Chart of the CIBERER

2 seven Research Programmes CIBERER units are organized into seven Research Programmes: Cooperative research in the field of rare diseases Reseach Programmes Genetic Medicine 16 research groups Inherited Metabolic Medicine 11 research groups Mitochondrial Medicine 8 research groups Pediatric and Developmental Medicine 8 research groups Neurosensorial Pathology 7 research groups Endocrine Medicine 4 research groups Inherited Cancer and Related Syndromes 6 research groups

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

4 increasing the research capacity of its scientific groups knowledge about 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: Cooperation Joined and increased the Cooperation between basic and clinical units Research Increased the Research on Rare Diseases Participation Fostered the Participation of groups in the CIBERER’s programmes Institutional Relations Established Institutional Relations PromotedDisseminated Promoted and Disseminated the activities of groups International Cooperation Fostered the International Cooperation opportunities of groups Network core facilities Cooperative research in the field of rare diseases BIER BioInformatica de Enfermedades Raras

5 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 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 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/ CIBERER Units 752 & 719 CIBERER member of Innovative Medicaments working group CIBERER´s therapeutic research

6 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… Experimental models in rare diseases: towards preclinical research Example of animal models: McArdle disease ( Pygm) X-linked adrenoleukodystrophy ( Abcd1 ) Charcot-Marie-Tooth type 4A (Gdap1) Retinitis pigmentosa (Cerkl) Down syndrome (Dyrk1a, others) Lafora disease (malin, laforine) Etc. Example of animal models: McArdle disease ( Pygm) X-linked adrenoleukodystrophy ( Abcd1 ) Charcot-Marie-Tooth type 4A (Gdap1) Retinitis pigmentosa (Cerkl) Down syndrome (Dyrk1a, others) Lafora disease (malin, laforine) Etc.

: an increase of the scientific collaboration and productivity by the CIBERER groups Evolution of intramural collaboration - CIBERER and

8 Intramural collaboration – CIBERER : an increase of the scientific collaboration and productivity by the CIBERER groups

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

10 Outcomes: increase on the number and quality of papers in RD Publications output between Documents Original Article Biography2 Correction Editorial Material Letter Meeting Abstract Proceedings Paper7972 Review Cited % cited/total81,474,773,384,870,681,2 Total

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

12 Go raibh maith agat Thank you More Information: (+34) “A model of Cooperative Research on Rare Diseases”