Transcript Diapositiva 1 - Health Research Board: News

Barriers and Challenges in Rare Diseases Research
Centre for Biomedical Network Research on Rare Diseases
(CIBERER)
A model of cooperative and translational research on rare
diseases
Dr. José M. Millán, PhD
Deputy Director of CIBERER
Universitary Hospital La Fe, Valencia, Spain
Dublin
March 26, 2012
Research in Rare Diseases in Spain
Historial Overview
• 1996. Creation of CISAT (Centre for the Research of the
Toxic Oil) in the Institute of Health Carlos III (ISCIII)
• 2000. Rare Diseases are included by ISCIII as a Main Topic
for its Research Programme.
• 2001. CISAT becomes CISATER (Centre for the Research of
the Toxic Oil and Rare Diseases). Creation of SIERE (Service
of Information on Rare Diseases in Spanish).
• 2003. RETICs (Networks for Thematic Research): REpIER,
INERGEN y RECGEN (One epidemiological network and
two genetic research networks on RD. CISATER is then
named IIER (Institute for Research in Rare Diseases
• 2006. CIBERER (Centre for Biomedical Network Research
on Rare Diseases)
Prioritary Biomedical Research Topics
• CNIO: National Centre for Oncology Research
• CNIC: National Centre for Cardiovascular Research
• CIBERS:
• CIBERNED: Neurodegenerative disorders
• CIBERES: Respiratory disorders
• CIBERHED: Hepatic and digestive disorders
• CIBEROBN: Obesity and Nutrition
• CIBERDEM: Diabetes and associated metabolic
disorders
• CIBERBBN: Bioengineering, Biomaterials and
Nanomedicine
• CIBERER: Rare Diseases
• CIBERESP: Epidemiology and Public Health
• CIBERSAM: Mental Health
2009. Strategy for Rare Diseases of the
National Health System
Ministry of Health and Social Policy
Coordinator: Prof. Francesc Palau
Needs:
•Information
•Prevention and Early Diagnosis
•Health and Social Care
•Therapy
•Research
•Training
Barriers in Rare Diseases Research
Epidemiology
• Lack of knowledge, lack of information
• Deficient or inexistent health registries for many rare diseases
and difficult coding according to the ICD system of classification
• Difficulties for epidemiological studies
• Visibility
• To identify the current human and information resources
• To set up registries for each rare disease and for rare diseases as
a global problem
• To ascertain the medical/ economical burden of rare diseases
• Beware of Dr.
!!
Barriers in Rare Diseases Research
Basic and Clinical Research
Natural History, Physiopathology, Genetics, Disease Models...
• The budget for biomedical research in Spain is low compared to
other EU countries (0.9% GDP)
• The budget for rare diseases is low compared to common
diseases
• To stimulate future R&D projects within the Health Strategic
Actions
• To promote the priorization of research projects on rare diseases
• To create, maintain and improve necessary structures, facilities
and human resources
Barriers in Rare Diseases Research
Therapy
• Lack of interest of the Pharma industry (too much investment
for too low economical benefit)
• Very few emerging small companies interested in
• Not many laboratories working in therapies for rare diseases
• To promote interest and financial support from the Public Health
System and Pharma enterprises
• Collaboration with Pharma Industry and Biotechs
• To promote research in orphan drugs - advanced therapies
(gene-based therapy and cell therapy)
Barriers in Rare Diseases Research
Training
• In Spain there is not a formal specialty in Clinical Genetics
• Rare diseases are not a topic in Universities, Medicine Schools...
• Students and scientist are more prone to common diseases
(Cancer, AIDS, Alzheimer dis., Cardiovascular dis...)
• Difficulties in making a carrier in genetics and rare diseases
• Creation of the specialty in Clinical Genetics (for physicians,
biomedical sciences, psicology...(AEGH and CIBERER)
• Courses, masters, academic topics devoted to rare diseases
Why research on rare diseases is needed?
Social reasons
Medical reasons
Scientific reasons
March 26th , 2012
CIBERER: An integrative proposal
Human
factor
Financial
factor
Training
factor
Research groups
Rare Diseases Research
March 26th , 2012
Social
factor
Multidisciplinary and
Integrative approach
Supranational
collaboration
Society
Healthcare
system
• National Centres of Expertise (CoE)
• Clinical investigation/Basic research
• National research networks
• Databases, registries, biobanks,
epidemiological surveillance
• Pharmaceuticals and biotechs
Political
factor
• European Networks of CoE, ECN
• European policy: fostering
national plans
• European platforms & infrastructures
• Patient empowerment
Centre for Biomedical Network Research on
Rare Diseases (CIBERER)
CIBERER is a public consortium set up at the initiative of the Institute of Health Carlos III (ISCIII) to act as
a reference to coordinate and foster research into Rare Diseases in Spain.
CIBERER groups clinical and basic researchers promoting Cooperative Research. The knowledge
generated is translated from the laboratory to clinical practice, and vice versa: Translational
Research.
CIBERER provides strategic coordination, human resources and materials as well as a collaborative
environment where synergy proper to high multidisciplinary and complementary research potential can
be developed.
CIBERER
ressources
The CIBERER has large human resources - over 700 persons
, madehuman
up of its
own staff of 159 CIBERER
contracted researchers, the rest of the members of the groups being scientists and technicians attached
to CIBERER.
18%
53% of our personnel are
PhD associate researchers.
53%
29%
PhD
Bachelor
Laboratory Technician
March 26th , 2012
Organization Chart of the CIBERER
Governing Board
External Advisory
Scientific
Committee
Permanent Commission
Scientific Director
Management Committee
Associated Clinical Groups
Intramural
Projects and
Support
Platforms
March 26th , 2012
(Coordinators)
Intramural Biomedical Projects in Rare Diseases (PIBER)
Support Platforms for Research into Rare Diseases (PITER)
Management Office
Cooperative research in the field of rare diseases
CIBERER units are organized into seven Research Programmes:
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
March 26th , 2012
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
March 26th , 2012
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 Participation of groups in the CIBERER’s programmes
•Established Institutional Relations
•Promoted and Disseminated the activities of groups
• Fostered the International Cooperation opportunities of groups
BIER
Network core facilities
March 26th , 2012
BioInformatica de
Enfermedades Raras
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
March 26th , 2012
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.
Example of animal models:
CIBERER experimental models network resources:
McArdle disease (Pygm)
 91 animal models for the study of rare diseases: X-linked adrenoleukodystrophy (Abcd1)
Mouse, Zebrafish, Drosophila, Medaka, C. elegans.
Charcot-Marie-Tooth type 4A (Gdap1)
 59 cells models for the study of rare diseases:
Retinitis pigmentosa (Cerkl)
HeLa, 3T3, SH-S5SY neuroblastoma cells, fibroblasts, COS cells, lymphoblast cells, astrocytes…
Down syndrome (Dyrk1a, others)
Lafora disease (malin, laforine)
Etc.
March 26th , 2012
2007 -2011: an increase of the scientific collaboration and
productivity by the CIBERER groups
Evolution of intramural collaboration - CIBERER
2000-02 and 2006-08
March 26th , 2012
2007 -2011: an increase of the scientific collaboration and
productivity by the CIBERER groups
Intramural collaboration – CIBERER 2010
March 26th , 2012
2007 -2011: an increase of the scientific collaboration and
productivity by the CIBERER groups
Collaborative network of
CIBERER groups with other
Spanish institutions (240)
March 26th , 2012
Collaborative network of
CIBERER groups with other
international institutions
(742)
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
405
2
1
8
22
69
9
21
5
8
15
139
7
25
2
15
18
90
2
36
Biography
Correction
Editorial Material
Letter
Meeting Abstract
Proceedings Paper
Review
2
5
10
54
3
5
13
73
16
10
1
12
12
126
7
27
Cited
% cited/total
267
81,4
239
74,7
382
73,3
448
84,8
368
70,6
461
81,2
Total
328
320
521
528
521
568
March 26th , 2012
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
March 26th , 2012
“A model of Cooperative
Research on Rare
Diseases”
Go raibh maith agat
Thank you
February 18th , 2011
More Information:
www.ciberer.es
[email protected]
(+34) 96.339.47.89