1. CORELATION OF CLINIC,
GENETIC AND EPIGENETIC
ASPECTS IMPLICATED IN THE
ETIOLOGY OF PRADER
WILLI/ANGELMAN SYNDROMS:
MODEL OF MULTIDISCIPLINARY
ABORDATION FOR RARE
DISEASES IN ROMANIA
Maria Puiu, CNMP project directorMaria Puiu, CNMP project director
University of Medicine and Pharmacy “VictorUniversity of Medicine and Pharmacy “Victor
Babes” Timisoara, Romania - Department ofBabes” Timisoara, Romania - Department of
Medical GeneticsMedical Genetics
2. The aimThe aim of the project is the integration ofof the project is the integration of
a multidisciplinary approach for Prader-Willia multidisciplinary approach for Prader-Willi
and Angelman syndromes, distinct genomicand Angelman syndromes, distinct genomic
diseases, with a neurodegenerativediseases, with a neurodegenerative
component.component.
CNMP Contract 42-113, 2008-2011CNMP Contract 42-113, 2008-2011
3. The cooperation begun aThe cooperation begun a
few years ago, withfew years ago, with
Prader-Willi AssociationPrader-Willi Association
in Romania.in Romania.
4. Between Timisoara and Zalau a bridge hasBetween Timisoara and Zalau a bridge has
been created.been created.
5. The project has 8 partners:The project has 8 partners:
• University of Medicine and Pharmacy “VictorUniversity of Medicine and Pharmacy “Victor
Babes” of TimisoaraBabes” of Timisoara
• University of BucharestUniversity of Bucharest
• Institute of Virusology “Stefan Nicolau” BucharestInstitute of Virusology “Stefan Nicolau” Bucharest
• Prader-Wlilli Association in RomaniaPrader-Wlilli Association in Romania
• Clinical Hospital of Emergency for Children “L.Clinical Hospital of Emergency for Children “L.
Turcanu” TimisoaraTurcanu” Timisoara
• University of Medicine and Pharmacy “T. Popa” IasiUniversity of Medicine and Pharmacy “T. Popa” Iasi
• University of Medicine and Pharmacy “I. Hatieganu”University of Medicine and Pharmacy “I. Hatieganu”
Cluj- NapocaCluj- Napoca
• National Institute of Endocrinology “C. I. Parhon”National Institute of Endocrinology “C. I. Parhon”
BucharestBucharest
8. General objectivesGeneral objectives
Implementation of new molecular methodsImplementation of new molecular methods
for genetic/epigenetic investigation andfor genetic/epigenetic investigation and
establishment of national centres with highestablishment of national centres with high
expertise in approaching the twoexpertise in approaching the two
syndromes, the rare genetic diseases thatsyndromes, the rare genetic diseases that
will develop educational reference andwill develop educational reference and
release centres.release centres.
9. Evolving efficient partnership with patientsEvolving efficient partnership with patients
associations through specific modalitiesassociations through specific modalities
like dialogue. The power of theselike dialogue. The power of these
associations will propel the research, willassociations will propel the research, will
inform the patients and will respond to civilinform the patients and will respond to civil
society questions.society questions.
10. Establishing international collaborationEstablishing international collaboration
and partnerships with researchers havingand partnerships with researchers having
similar scientific preoccupations,similar scientific preoccupations,
establishing partnerships with otherestablishing partnerships with other
National Organizations PWS, IPSWO andNational Organizations PWS, IPSWO and
affiliated research groups from eachaffiliated research groups from each
country aiming financial support oncountry aiming financial support on
programs that intend to stimulateprograms that intend to stimulate
collaboration between specialists,collaboration between specialists,
researchers and nongovernmentalresearchers and nongovernmental
organizations.organizations.
11. Developing a multidisciplinary partnershipDeveloping a multidisciplinary partnership
to build a common platform of activities forto build a common platform of activities for
new innovative solutions in respect to rarenew innovative solutions in respect to rare
disease needs.disease needs.
12. These new bridges of real and effectiveThese new bridges of real and effective
collaboration will ascertain on the nationalcollaboration will ascertain on the national
level the creation of a solid networklevel the creation of a solid network
comprising institutions with high expertise incomprising institutions with high expertise in
this domain, well connected to otherthis domain, well connected to other
national or international research networks.national or international research networks.
13. Specific objectivesSpecific objectives
Developing of a clinical interdisciplinaryDeveloping of a clinical interdisciplinary
investigationinvestigation algorithm specifiedalgorithm specified forfor
SPW/SA and clear evaluation afterSPW/SA and clear evaluation after
elaboration of scores that will track downelaboration of scores that will track down
easily the suspicious cases and will permiteasily the suspicious cases and will permit
genetic/epigenetic investigation, aiming agenetic/epigenetic investigation, aiming a
rapid and correct diagnosis and anrapid and correct diagnosis and an
efficient early treatment.efficient early treatment.
14. Identification of some possible intrinsicIdentification of some possible intrinsic
factors (individuals) and extrinsic factorsfactors (individuals) and extrinsic factors
(environmental) responsible for(environmental) responsible for
determining alteration of imprintingdetermining alteration of imprinting
process, transgenerational based onprocess, transgenerational based on
applying questioners adapted to familyapplying questioners adapted to family
belongers, having as much as possible inbelongers, having as much as possible in
respect with number of the generation.respect with number of the generation.
15. Access of a standardized base forAccess of a standardized base for
SPW/SA and gathering clinical data,SPW/SA and gathering clinical data,
genetic, epigenetic from all the countrygenetic, epigenetic from all the country
and European integration, describing anand European integration, describing an
European model resulting a NationalEuropean model resulting a National
Registry for Rare Disease. Registry for Rare Disease.
16. Hopefully this project and theHopefully this project and the
cooperation with the Ministry ofcooperation with the Ministry of
Health, Ministry of Work, and otherHealth, Ministry of Work, and other
decisional forums, will allow thedecisional forums, will allow the
approach of the rare diseases in aapproach of the rare diseases in a
network, with the establishment of thenetwork, with the establishment of the
reference centers and thereference centers and the
competence ones.competence ones.
