Romania: research in

rare diseases –
totghether and for
patients

Maria Puiu,
Mihai Gafencu,
Dorica Dan,
Margit Serban
Who decides what medical
research is done?
Some genetic research can
bring benefits to health, but
is genetic research always
conducted in the public
interest?
In recent years, rare
diseases have become a
priority and a major
concern of the European
Parliament.
It became increasingly obvious that these
patients need support from European
community.
• All the national single efforts in this field
are not sufficient and those diseases are
so rare, there we need centers and
experts in each European State.
In Romania, the growing
interest of the
govermental health
system is due to the
Rare Disease Patients
Associations effort in
the last 5 years (RPWA
then RoNaRD).
• But their efforts have to be completed by
medicals’ community.
In this context, a group of Romanian
professionals have initiated the research
project
”Corelation of clinic, genetic and epigenetic
aspects implicated in the etiology of
Prader Willi/Angelman syndroms: model of
multidisciplinary abordation for rare
diseaseas in Romania”.
• The project is remarcable because of the
development of an efficient cooperation
and partnership among important
institutions for medical education,
universities, research institution and
patient organisation (RPWA) in order to
solve some problems related to diagnostic,
complex treatment and prevention in RD.
 The new interdisciplinary and pluridisciplinary
approach of RD research in Romanian :
1. will enssure a better connection with European research
projects…
2. will contribute to: - optimization of the investigation
methods
- a more efficient public health care sistem, with a major
economic and social impact through shortening the period
for a proper genetic diagnose and hospitalisation,
reducing the costs and increasing their chances for
integration into community.
• Through this project a CDI network with
expertise in RD will be established, at EU
standards, improving the capacity for
education and research.
• Our project promotes a new model of
partnersip among researchers and
patients and will prove, at national level,
the efficiency of the network approach in
RD and cooperation for both, patient
interest and research.
• Our ……
• There are more to be done...
- Health policy
- Money
- Human resources
 Acknowledgements

The Prader Willi Associations

EURORDIS, IPWSO, Inovation Norway,
MH Romania

The international experts

Together…

Thank you!