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Intramural Biomedical Projects in Rare Diseases (PIBER)

Support Platforms for Research into Rare Diseases (PITER)

Management Office

Scientific Director

Governing Board

Associated Clinical Groups

Intramural Projects and

Support Platforms

Organization Chart of the CIBEREROrganization Chart of the CIBERER

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CIBERER units are organized into seven Research Programmesseven Research Programmes:

 

Cooperative research in the field of rare diseasesCooperative research in the field of rare diseases

Reseach ProgrammesReseach Programmes

Genetic Medicine Genetic Medicine 16 research groups

Inherited Metabolic Medicine Inherited Metabolic Medicine 11 research groups

Mitochondrial Medicine Mitochondrial Medicine 8 research groups

Pediatric and Developmental Medicine Pediatric and Developmental Medicine 8 research groups

Neurosensorial Pathology Neurosensorial Pathology 7 research groups

Endocrine Medicine Endocrine Medicine 4 research groups

Inherited Cancer and Related Inherited Cancer and Related Syndromes Syndromes

6 research groups

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• 60 Research Groups 29 Consorted Institutions 7 Research Programmes

• The centre encloses clinical and basic researchers promoting Cooperative Cooperative Research in Rare Diseases. Research in Rare Diseases.

• It is a Centre with an innovative innovative network structurenetwork structure:: offers opportunities of research actions and public-private collaboration.

Internal Structure of CIBERERInternal Structure of CIBERER

The knowledge generated is translated from the laboratory to clinical practice

Translational ResearchTranslational Research

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During its 5 years of existence, the CIBERER has allowed increasing the research capacity of its increasing the research capacity of its scientific groups scientific groups and has increased the knowledge about Rare Diseasesknowledge about Rare Diseases. CIBERER Programmes have:

•Joined and increased the CooperationCooperation between basic and clinical units

•Increased the ResearchResearch on Rare Diseases

•Fostered the ParticipationParticipation of groups in the CIBERER’s programmes

•Established Institutional RelationsInstitutional Relations

•PromotedPromoted and DisseminatedDisseminated the activities of groups

• Fostered the International Cooperation International Cooperation opportunities of groups

 

Network core facilities

Cooperative research in the field of rare diseasesCooperative research in the field of rare diseases

BIERBioInformatica de Enfermedades Raras

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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. 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

CIBERER member of Innovative Medicaments working group

CIBERER´s therapeutic researchCIBERER´s therapeutic research

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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 Experimental models in rare diseases: towards preclinical researchpreclinical 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.

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2007 -2011: an increase of the scientific collaboration and productivity by the CIBERER groups

Evolution of intramural collaboration - CIBERER Evolution of intramural collaboration - CIBERER 2000-02 and 2006-082000-02 and 2006-08

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Intramural collaboration – CIBERER 2010Intramural collaboration – CIBERER 2010

2007 -2011: an increase of the scientific collaboration and productivity by the CIBERER groups

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Collaborative network of CIBERER groups with other Spanish institutions (240)

Collaborative network of CIBERER groups with other

international institutions(742)

2007 -2011: an increase of the scientific collaboration and productivity by the CIBERER groups

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Outcomes: increase on the number and quality of papers in RD

Publications output between 2005 - 2010

Documents 2005 2006 2007 2008 2009 2010

Original Article 241 216 336 396 321 405Biography 2Correction 2 3 1 1 5 2

Editorial Material 5 5 12 8 8 15Letter 10 13 12 22 15 18

Meeting Abstract 54 73 126 69 139 90Proceedings Paper 7 9 7 2

Review 16 10 27 21 25 36

Cited 267 239 382 448 368 461% cited/total 81,4 74,7 73,3 84,8 70,6 81,2

Total 328 320 521 528 521 568

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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

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Go raibh maith agat Go raibh maith agat Thank youThank you

More Information:www.ciberer.esinfo@ciberer.es

(+34) 96.339.47.89

““A model of Cooperative A model of Cooperative Research on Rare Research on Rare

DiseasesDiseases””