1. Determinants for Research on Rare Diseases
Francesc Palau, MD, PhD
Institute of Biomedicine of Valencia, CSIC
CIBER on Rare Diseases (CIBERER)
Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 1

2. Why Research on Rare Diseases?
Social reasons
Medical reasons
Scientific reasons
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3. "Nature is nowhere accustomed more
openly to display her secret mysteries
than in cases where she shows
traces of her workings apart from the
beaten path; nor is there any better
way to advance the proper practice of
medicine than to give our minds to the
discovery of the usual law of Nature
by careful investigation of cases of
rare forms of diseases. For it has been
found in almost all things, that what
they contain of useful or applicable
nature is hardly perceived unless we
are deprived of them, or they become
deranged in some way."
La Clairvoyance, René Magritte, 1936
William Harvey, 1657. Quoted by
Garrod A.: The lesson of rare
maladies. Lancet 1928;1:1055‐1066)
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4. “Clinical – Research” Frame
Research
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5. Basic Biomedical Research
It is the research related
to the knowledge of
biological processes, the
H. sapiens C. elegans
structure and function of S. cerevisiae M. musculus
the human body and the
pathophysiological
mechanisms of disease.
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6. Clinical Investigation: Patient Oriented Research
A clinical oriented research program is that
related to the knowledge of diseases, their
etiology and natural history
and to the efficacy and effectiveness of the
preventive measures, diagnostic procedures
and therapeutics,
being the subject of the study the human being
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7. Beneficiaries
Translational
Research
University Research
Hospital Interaction Centre
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8. Human Factor
Structured research teams
Senior investigators
Young people in training
Basic science or clinical investigation
Multidisciplinarity Hospital Academy
Basic scientists
Physician-scientits
Engineers
Physicists
Industry
Interacting networks
Domestic
Trans-national Emergent groups
European
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9. Financial Factor
Biology and Medicine: Health Theme
Call for proposals
E-Rare (ERA-Net for research programs on rare diseases) is
a network of ten partners – public bodies, ministries and
research management organizations – from eight countries,
responsible for the development and management of
national/regional research programs on rare diseases.
Le GIS-Institut des maladies rares a été créé en avril 2002 à
l’initiative des pouvoirs publics, des associations de malades
et des organismes de recherche pour stimuler, développer et
coordonner la recherche sur les maladies rares.
CIBERER is research centre having the structure of a network
of excellence addressed towards cooperation between
biomedical and clinical research groups, favouring
translational research to provide new tools for the diagnosis
and therapy of rare diseases.
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10. Training Factor
Graduate schools
Medicine
Medical sciences
Biological sciences
Social sciences
Doctorates adn Fellowships
M.D..
Ph.D.
M.D./Ph.D.
Clinical specialization
Rare diseases
Masters and specific training
in rare diseases
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11. Core Facilities
Databases
Disease registries
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12. Core Facilities
BBMRI will sustainably secure access to biological resources required for health-
related research and development intended to improve the prevention, diagnosis
and treatment of disease and to promote the health of the citizens of Europe.
The CBK was set up with the aim of
serving diagnostic and therapeutic
research, by facilitating the availability of
high-quality biological material available
for research groups anywhere in the
world.
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13. Healthcare Factor
…. Patient’s needs – walking ….
Early diagnosis
Information
Primary care
Appropriate
treatment Centre of Expertise
Genetic counselling
Hospital care
and specialists Access to medical
& social services
Research
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14. Social Factor
…Patients & Patients’ Organizations needs – walking ….
Interactions Healthcare system
Empowerment Centre of expertise
Responsibility Research
CONFIDENCE
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15. Political Factor
European Council and Member States and Associates
Recommendations
Plans and strategies in RD
Adequate definitions, codification
and inventorying of RD
Research on RD Political response of
Centre of Expertise & European
Reference Networks for RD the European States
Gathering the expertise on RD
at European level
Empowerment of patient org.
Sustainability
Research
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16. An integrative summary
• National Centres of Expertise (CoE)
• Clinical investigation/Basic research
• Registries, biobanks, databases
Human Financial Training
epidemiological surveillance
factor factor factor • Farmaceuticals and biotechs
Research groups Multidisciplinary and
Integrative approach
Rare Diseases Research
Supranational
collaboration
Society
Healthcare Social Political • European Networks of CoE
system factor factor • European policy: fostering plans
• European platforms & infrastructures
• Patient empowerment
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17. Essentialist vision:
Patient = “broken machine”
Proximal causes
The patient as the typical case
Typological, reduccionist thinking
Specialized healthcare
Ecological vision:
A group of individuals
Ecosystem Shared causes
= shared home Evolutionary thinking
Homeostasis The social individual
= internal medium Integral and
multidisciplinary care
Nominalist or
physiological vision:
Patient = individual HEALTHCARE MODEL:
Remotes causes • Multidisciplinary and integrative
Patient as his/her individuality circuit
Population thinking • Integration of clinical practice and
Primary care clinical and biomedical research
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18. “Advancing by Research”
Rare Diseases Day
Thank you for your attention!
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