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

Francesc Palau, MD, PhDFrancesc Palau, MD, PhD

Institute of Biomedicine of Valencia, CSICInstitute of Biomedicine of Valencia, CSICCIBER on Rare Diseases (CIBERER)CIBER on Rare Diseases (CIBERER)

Determinants for Research on Rare Diseases Determinants for Research on Rare Diseases

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Why Research on Rare Diseases?Why Research on Rare Diseases?Social reasons

Medical reasons

Scientific reasons

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"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."

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

La Clairvoyance, René Magritte, 1936

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

ResearchResearch

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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. elegans

S. cerevisiae M. musculus

H. sapiens

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Clinical Investigation: Patient Oriented ResearchClinical Investigation: Patient Oriented Research

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

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Research Research CentreCentre

University University HospitalHospital

BeneficiariesBeneficiaries

Translational Translational ResearchResearch

InteractionInteraction

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Human FactorHuman Factor

Structured research teams

Senior investigatorsYoung people in trainingBasic science or clinical investigation

Emergent groups

Multidisciplinary approach

Interacting networks

Basic scientistsPhysician-scientistsEngineersPhysicists

DomesticTrans-nationalEuropean

Academy

Industry

Hospital

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Financial FactorFinancial Factor

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.

Biology and Medicine: Health ThemeCall for proposals – Rare diseases as a major topic

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, created in 2006, is a 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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Training FactorTraining Factor

Graduate schools

MedicineMedical 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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Core FacilitiesCore Facilities

Disease registries

Databases

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Core FacilitiesCore 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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Healthcare FactorHealthcare Factor

…. Patients’ needs – walking ….

Hospital care and specialists

Primary careInformation

Appropriatetreatment

Access to medical& social services

Genetic counselling

Early diagnosis

Research

Centre of ExpertiseCentre of Expertise

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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 RD Adequate definitions, codification and inventorying of RD Research on RD Centre of Expertise & European Reference Networks for RD Gathering the expertise on RD at European level Empowerment of patient org. Sustainability

Research

Recommendations

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Rare Diseases ResearchRare Diseases Research

Socialfactor

Political factor

Healthcaresystem

SocietySociety

Financial factor

Training factor

Human factor

Research groupsResearch groups

Supranational Supranational collaborationcollaboration

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

Multidisciplinary andMultidisciplinary andIntegrative approachIntegrative approach

• National Centres of Expertise (CoE)• Clinical investigation/Basic research• Registries, biobanks, databases, epidemiological surveillance• Pharmaceuticals and biotechs

An integrative summaryAn integrative summary

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Homeostasis= internal medium

Ecosystem= shared home

Nominalist or physiological vision:Patient = individual Remotes causes Patient as his/her individualityPopulation thinkingPrimary carePrimary care

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

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

HEALTHCARE MODEL:HEALTHCARE MODEL:• Multidisciplinary and integrative Multidisciplinary and integrative circuitcircuit• Integration of clinical practice andIntegration of clinical practice and clinical and biomedical researchclinical and biomedical research

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Thank you for your attention!Thank you for your attention!

“ “Advancing by Research”Advancing by Research”Rare Diseases DayRare Diseases Day