ePACIBARD: Collective Intelligence for research in ultra rare diseases.

A conceptual model.

Manuel ArmayonesBeni Gómez-Zúñiga

Modesta PousadaBegoña Nafría

Mercedes Serrano

November 29, 2012 IV Workshop on Technology for Healthcare and Healthy Lifestyle

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.

Ultra-rare diseases

Research on a very few of these diseases

A very limited number of patients

Hopelessness and psychological distresss

Research on ultra-rare diseases

Towards more collaborative models:patientspatients associationscaregiversphysiciansresearchersindustry

and so on…

Research on common diseases

Research on rareor ultra rare diseases

Research on rare or ultra-rare diseases

Collaborative ModelsWorking togheter

Collective Intelligence

Psychological effects

Psychological dispairStressDepressionLack of therapeutic

hopeNo support for

everyday lifeIsolation

Hospital team

Doctors Psychologists

SpainFamilies France

Great Britain Italy

CIBERER

Patients

Patients, doctors & researchers, stronger together

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

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

The e-Patients potential in the biomedical research

Positive psychological effect on patients and caregivers

Thanks to Web 2.0

New forms of collective intelligence

Patients and families improving and enriching research

Our team:6 expert doctors5 psychologists2 clinical

biochemists1 geneticist1 journalist1 computer

specialist10 families

Our first results:

More than 70 molecular studies

We are evaluating quality of life and empowerment with validated scales

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.

ePACIBARD: Collective Intelligence for research in ultra rare diseases.

A conceptual model.

Manuel ArmayonesBeni Gómez-Zúñiga

Modesta PousadaBegoña Nafría

Mercedes Serrano

December 29, 2012 IV Workshop on Technology for Healthcare and Healthy Lifestyle