12 1
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
2
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
3
• 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
4
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
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. 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
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 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.
7
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
8
Intramural collaboration – CIBERER 2010Intramural collaboration – CIBERER 2010
2007 -2011: 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)
2007 -2011: 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 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
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 Go raibh maith agat Thank youThank you
More Information:[email protected]
(+34) 96.339.47.89
““A model of Cooperative A model of Cooperative Research on Rare Research on Rare
DiseasesDiseases””
Top Related