Traditional medical research models are unsuccessful when facing ultrarare diseases. It is necessary to explore and support other research models that overcome the restrictions that we find in rare and ultra rare diseases research. It is necessary to promote “collaborative models” between patients, or patients associations, and researchers. Through this alliance, this collaboration, we are building a conceptual framework, and we are working in the creation of a virtual platform that could be useful for exposing the hidden knowledge from those patients. Although we are working in one disease (the Lowe Syndrome), the novelty of our project is the design of a conceptual framework and a modular environment that will allow us to apply the same methodology to different diseases. From needs of researchers and patients, we set four main objectives: - Improving medical-scientific knowledge of rare diseases; - intervening on the psychological wellbeing of patients and caregivers with rare diseases; - promoting dissemination and awareness about rare diseases, specially through Internet, but also empowering patients and disseminators; - promoting sustainability of research projects on rare diseases, collaborating with patients and taking profit of all their potential.

1. ePACIBARD: Collective Intelligence for
research in ultra rare diseases.
A conceptual model.
Manuel Armayones
Beni Gómez-Zúñiga
Modesta Pousada
Begoña Nafría
Mercedes Serrano
November 29, 2012
IV Workshop on Technology for
Healthcare and Healthy Lifestyle

4. Ultra-rare diseases
The estimated prevalence of Lower
syndrome in the general population is
approximately 1 case in 500,000 births.
For the majority of rare diseases affecting
less than 1 person in 10 000, therapeutic
research is absent or very limited.

5. Ultra-rare diseases
Research on a very few of these
diseases
A very limited number of patients
Hopelessness and psychological
distresss

6. Research on ultra-rare
diseases
Towards more collaborative models:
patients
patients associations
caregivers
physicians
researchers
industry
and so on…

7. Research on
common diseases
Research on rare
or ultra rare diseases

8. Research on rare or ultra-rare diseases
Collaborative Models
Working togheter
Collective Intelligence

10. Psychological
effects
Psychological dispair
Stress
Depression
Lack of therapeutic
hope
No support for
everyday life
Isolation

11. Hospital team

12. Doctors Psychologists
Spain
Families France
Great Britain
Italy
CIBERER

13. Patients
Patients, doctors &
researchers,
stronger together

14. Four objectives
1.-Improving medical-scientific
knowledge of rare diseases
2.- Intervening on the psychological
wellbeing of patients and caregivers
3.- Promoting dissemination and
awareness about rare diseases
4.- Promoting sustainability of research
projects

15. the role of patients
is changing from
a passive to an
active one
e-Patient
• with informational
skills
• positive attitude
• the most active
group of patients
in Internet

16. The e-Patients
potential in the
biomedical
research
Positive
psychological effect
on patients and
caregivers

17. Thanks to
Web 2.0
New forms of collective
intelligence
Patients and families
improving and
enriching research

18. Our team:
6 expert doctors
5 psychologists
2 clinical biochemists
1 geneticist
1 journalist
1 computer specialist
10 families

20. Our first results:
More than 70 molecular studies
We are evaluating quality of life
and empowerment with validated
scales

21. Our conceptual model...
...becomes a new research path
based in collaboration between
patients and researchers. This
collaboration will be a powerful
source not only for research itself, but
also a good strategy for the
empowerment of patients and their
families. Progress will come from
collaborative work among all health
actors, and an extreme use of new
technologies to generate knowledge.

23. ePACIBARD: Collective Intelligence for
research in ultra rare diseases.
A conceptual model.
Manuel Armayones
Beni Gómez-Zúñiga
Modesta Pousada
Begoña Nafría
Mercedes Serrano
December 29, 2012
IV Workshop on Technology for
Healthcare and Healthy Lifestyle