Francesc Palau, MD, PhD Institute of Biomedicine of Valencia, CSIC CIBER on Rare Diseases (CIBERER) Determinants for Research on Rare Diseases
Why Research on Rare Diseases? <ul><li>Social reasons </li></ul><ul><li>Medical reasons </li></ul><ul><li>Scientific reasons </li></ul>
<ul><li>"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." </li></ul><ul><li>William Harvey, 1657. Quoted by Garrod A.: The lesson of rare maladies . Lancet 1928;1:1055-1066) </li></ul>La Clairvoyance, René Magritte, 1936
Basic Biomedical Research <ul><li>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. </li></ul>C. elegans S. cerevisiae M. musculus H. sapiens
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
Research Centre University Hospital Beneficiaries Translational Research Interaction
Human Factor Structured research teams Senior investigators Young people in training Basic science or clinical investigation Emergent groups Multidisciplinary approach Interacting networks Basic scientists Physician-scientists Engineers Physicists Domestic Trans-national European Academy Industry Hospital
Financial 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 Theme Call 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.
Training Factor Graduate schools Medicine Medical sciences Biological sciences Social sciences Doctorates adn Fellowships Rare diseases M.D.. Ph.D. M.D./Ph.D. Clinical specialization Masters and specific training in rare diseases
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.
Healthcare Factor … . Patients’ needs – walking …. Hospital care and specialists Primary care Information Appropriate treatment Access to medical & social services Genetic counselling Early diagnosis Research Centre of Expertise
Social Factor … Patients & Patients’ Organizations needs – walking …. Responsibility Centre of expertise Healthcare system Interactions Research Empowerment CONFIDENCE
Political Factor European Council and Member States and Associates Political response of the European States <ul><li>Plans and strategies in RD </li></ul><ul><li>Adequate definitions, codification </li></ul><ul><li>and inventorying of RD </li></ul><ul><li>Research on RD </li></ul><ul><li>Centre of Expertise & European </li></ul><ul><li>Reference Networks for RD </li></ul><ul><li>Gathering the expertise on RD </li></ul><ul><li>at European level </li></ul><ul><li>Empowerment of patient org. </li></ul><ul><li>Sustainability </li></ul>Recommendations Research
Social factor Political factor Healthcare system Society Financial factor Training factor Human factor Research groups An integrative summary Rare Diseases Research Supranational collaboration <ul><li>European Networks of CoE </li></ul><ul><li>European policy: fostering plans </li></ul><ul><li>European platforms & infrastructures </li></ul><ul><li>Patient empowerment </li></ul>Multidisciplinary and Integrative approach <ul><li>National Centres of Expertise (CoE) </li></ul><ul><li>Clinical investigation/Basic research </li></ul><ul><li>Registries, biobanks, databases, </li></ul><ul><li>epidemiological surveillance </li></ul><ul><li>Pharmaceuticals and biotechs </li></ul>
<ul><li>HEALTHCARE MODEL: </li></ul><ul><li>Multidisciplinary and integrative </li></ul><ul><li>circuit </li></ul><ul><li>Integration of clinical practice and </li></ul><ul><li>clinical and biomedical research </li></ul>Homeostasis = internal medium Ecosystem = shared home Nominalist or physiological vision: Patient = individual Remotes causes Patient as his/her individuality Population thinking Primary care Essentialist vision: Patient = “broken machine” Proximal causes The patient as the typical case Typological, reduccionist thinking Specialized healthcare Ecological vision: A group of individuals Shared causes Evolutionary thinking The social individual Integral and multidisciplinary care
Thank you for your attention! “ Advancing by Research” Rare Diseases Day