Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 1

Francesc Palau, MD, Francesc Palau, MD, PhDPhDInstituteInstitute ofof BiomedicineBiomedicine ofof Valencia, CSICValencia, CSIC

CIBER CIBER onon RareRare DiseasesDiseases (CIBERER)(CIBERER)

DeterminantsDeterminants forfor ResearchResearch onon RareRare DiseasesDiseases

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 2

WhyWhy ResearchResearch onon RareRare DiseasesDiseases??Social reasons 

Medical reasons

Scientific reasons

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"Nature  is nowhere accustomed more openly to display her secret mysteriesthan in cases  where she shows traces of her workings apart from the beaten path;  nor is there any betterway 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 whatthey contain of  useful or  applicable nature  is hardly perceived unless weare deprived of them, or they becomederanged in some way." 

William Harvey, 1657. Quoted by Garrod A.: The lesson of rare maladies. Lancet 1928;1:1055‐1066)

La Clairvoyance, René Magritte, 1936

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 4

“Clinical – Research” Frame“Clinical – Research” Frame

ResearchResearch

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 5

Basic Biomedical ResearchBasic Biomedical Research

It is the research related 

to the knowledge of 

biological processes, the 

structure and function of 

the human body and the 

pathophysiological

mechanisms of disease.

C. elegansS. cerevisiae M. musculus

H. sapiens

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 6

ClinicalClinical InvestigationInvestigation: : PatientPatient OrientedOriented ResearchResearch

A clinical oriented research program is that A clinical oriented research program is that related to the knowledge of diseases, their related to the knowledge of diseases, their 

etiology and natural historyetiology and natural historyand to the efficacy and effectiveness of the and to the efficacy and effectiveness of the preventive measures, diagnostic procedures preventive measures, diagnostic procedures 

and therapeutics, and therapeutics, being the subject of the study the human beingbeing the subject of the study the human being

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 7

Research Research CentreCentre

University University HospitalHospital

BeneficiariesBeneficiaries

Translational Translational ResearchResearch

InteractionInteraction

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Human FactorHuman Factor

Structured research teamsSenior investigatorsYoung people in trainingBasic science or clinical investigation

Emergent groups

Multidisciplinarity

Interacting networks

Basic scientistsPhysician-scientitsEngineersPhysicists

DomesticTrans-nationalEuropean

Academy

Industry

Hospital

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FinancialFinancial FactorFactor

E-Rare (ERA-Net for research programs on rare diseases) isa network of ten partners – public bodies, ministries andresearch management organizations – from eight countries, responsible for the development and management ofnational/regional research programs on rare diseases.

Biology and Medicine: Health ThemeCall for proposals

Le GIS-Institut des maladies rares a été créé en avril 2002 àl’initiative des pouvoirs publics, des associations de maladeset 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.

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 10

Training FactorTraining Factor

Graduate schoolsMedicineMedical sciencesBiological sciencesSocial sciences

Doctorates adn Fellowships

Rare diseases

M.D..Ph.D.M.D./Ph.D.Clinical specialization

Masters and specific trainingin rare diseases

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CoreCore FacilitiesFacilities

Disease registries

Databases

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CoreCore FacilitiesFacilities

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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Healthcare FactorHealthcare Factor

…. Patient’s needs – walking ….

Hospital care and specialists

Primary careInformation

Appropriatetreatment

Access to medical& social services

Genetic counselling

Early diagnosis

Research

Centre of ExpertiseCentre of Expertise

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 14

Social FactorSocial Factor

…Patients & Patients’ Organizations needs – walking ….

Responsibility

Centre of expertise

Healthcare systemInteractions

Research

Empowerment

CONFIDENCE

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Political FactorPolitical Factor

European Council and Member States and Associates

Political response of the European States

Plans and strategies in RDAdequate definitions, codificationand inventorying of RDResearch on RDCentre of Expertise & EuropeanReference Networks for RDGathering the expertise on RD at European levelEmpowerment of patient org.Sustainability

Research

Recommendations

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Rare Diseases ResearchRare Diseases Research

Socialfactor

Political factor

Healthcaresystem

Society

Financial factor

Training factor

Human factor

Supranational Supranational collaborationcollaboration

Research groups Multidisciplinary andMultidisciplinary andIntegrative approachIntegrative approach

• European Networks of CoE• European policy: fostering plans• European platforms & infrastructures• Patient empowerment

• National Centres of Expertise (CoE)• Clinical investigation/Basic research• Registries, biobanks, databasesepidemiological surveillance

• Farmaceuticals and biotechs

An integrative summaryAn integrative summary

Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 17

Homeostasis= internal medium

Ecosystem= shared home

Nominalist orphysiological vision:Patient = individual Remotes causes Patient as his/her individualityPopulation thinkingPrimary care

Essentialist vision:Patient = “broken machine”Proximal causes The patient as the typical case Typological, reduccionist thinkingSpecialized healthcare

Ecological vision:A group of individualsShared causesEvolutionary thinkingThe social individualIntegral andmultidisciplinary care

HEALTHCARE MODEL:HEALTHCARE MODEL:•• Multidisciplinary and integrative Multidisciplinary and integrative circuitcircuit

•• Integration of clinical practice andIntegration of clinical practice andclinical and biomedical researchclinical and biomedical research

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ThankThank youyou forfor youryour attentionattention!!

““AdvancingAdvancing by by ResearchResearch””RareRare DiseasesDiseases DayDay