Determinants for Research on Rare Diseases




                             Francesc Palau, MD, PhD
                 Insti...
Why Research on Rare Diseases?
         Social reasons 

         Medical reasons

         Scientific reasons




Krakow,...
"Nature is nowhere accustomed more 
          openly to display her secret mysteries
          than in cases     where she...
“Clinical – Research” Frame




                             Research




Krakow, May 13th‐15th 2010   5th European Confer...
Basic Biomedical Research
It is the research related 
to the knowledge of 
biological processes, the 
                    ...
Clinical Investigation: Patient Oriented Research

         A clinical oriented research program is that 
         related...
Beneficiaries



                                      Translational 
                                        Research

  ...
Human Factor
Structured research teams
 Senior investigators
 Young people in training
 Basic science or clinical investig...
Financial Factor
                             Biology and Medicine: Health Theme
                             Call for pro...
Training Factor
Graduate schools
   Medicine
   Medical sciences
   Biological sciences
   Social sciences
Doctorates adn ...
Core Facilities

                   Databases




Disease registries



 Krakow, May 13th‐15th 2010   5th European Confere...
Core Facilities




BBMRI will sustainably secure access to biological resources required for health-
related research and...
Healthcare Factor

          …. Patient’s needs – walking ….

                                 Early diagnosis
           ...
Social Factor

…Patients & Patients’ Organizations needs – walking ….


     Interactions                                 ...
Political Factor

European Council and Member States and Associates

Recommendations
    Plans and strategies in RD
    Ad...
An integrative summary
                                                             • National Centres of Expertise (CoE)
...
Essentialist vision:
Patient = “broken machine”
Proximal causes
The patient as the typical case
Typological, reduccionist ...
“Advancing by Research”
                                                 Rare Diseases Day

                           Tha...
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Session 13 francesc_palau

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Session 13 francesc_palau

  1. 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. 2. Why Research on Rare Diseases? Social reasons  Medical reasons Scientific reasons Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 2
  3. 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) Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 3
  4. 4. “Clinical – Research” Frame Research Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 4
  5. 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. Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 5
  6. 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 Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 6
  7. 7. Beneficiaries Translational  Research University  Research  Hospital Interaction Centre Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 7
  8. 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 Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 8
  9. 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. Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 9
  10. 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 Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 10
  11. 11. Core Facilities Databases Disease registries Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 11
  12. 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. Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 12
  13. 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 Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 13
  14. 14. Social Factor …Patients & Patients’ Organizations needs – walking …. Interactions Healthcare system Empowerment Centre of expertise Responsibility Research CONFIDENCE Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 14
  15. 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 Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 15
  16. 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 Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 16
  17. 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 Krakow, May 13th‐15th 2010 5th European Conference on Rare Diseases 17
  18. 18. “Advancing by Research” Rare Diseases Day Thank you for your attention! 18 Krakow, May 13‐15th 2010 European Conference on Rare Diseases 18 18
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