Annual Activity Report 2010 Romanian Prader Willi Association ...
Annual Activity Report 2010 Romanian Prader Willi Association ...
Annual Activity Report 2010 Romanian Prader Willi Association ...
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Correlation of clinical,<br />
genetic and epigenetic<br />
aspects implicated in<br />
the aetiology of <strong>Prader</strong><br />
<strong>Willi</strong>/Angelman syndromes:<br />
model of multidisciplinary<br />
approach for rare<br />
diseases in Romania<br />
The <strong>Romanian</strong> <strong>Prader</strong> <strong>Willi</strong> <strong>Association</strong> participated<br />
as partner in a research project funded by THE<br />
NATIONAL PROGRAMMES MANAGEMENT CENTRE<br />
– CNMP, programme 4 – Partnerships in priority fields,<br />
implemented between October 2008 – September 2011.<br />
Project partners<br />
• Children’s Emergency Clinical Hospital “Louis Turcanu” Timisoara<br />
• Bucharest University<br />
• National Institute of Virusology “Stefan Nicolau” Bucharest<br />
• University of Medicine and Pharmacy “T. Popa” Iasi<br />
• University of Medicine and Pharmacy “I. Hateganu” Cluj-Napoca<br />
• <strong>Romanian</strong> <strong>Prader</strong> <strong>Willi</strong> <strong>Association</strong><br />
• National Institute of Endocrinology “C. I. Parhon” Bucharest<br />
Project aim<br />
The integrated multidisciplinary investigation of<br />
<strong>Prader</strong> <strong>Willi</strong> and Angelman syndromes, genetic<br />
diseases with complex diagnosis, treatment<br />
and care issues.<br />
Trough nationwide partners, the project ensures<br />
the clinical, genetic and epigenetic studies in<br />
these diseases, establishing a standard scheme<br />
for early diagnosis and a better practice in<br />
the health and social systems for PWS/AS<br />
patients.<br />
The project team includes well-known<br />
specialists from Timisoara, Bucharest, Iasi and<br />
Cluj university centre. The Project Coordinator<br />
is the University of Medicine and Pharmacy<br />
“Victor Babes” Timisoara, Conf. Dr. Maria Puiu<br />
being the Project Director.<br />
Through this partnership between universities,<br />
research institutes, hospitals and an NGO – the<br />
<strong>Romanian</strong> <strong>Prader</strong> <strong>Willi</strong> <strong>Association</strong>, our purpose<br />
is to develop a multidisciplinary investigation<br />
model of rare diseases in Romania.<br />
10 <strong>Annual</strong> <strong>Activity</strong> <strong>Report</strong> <strong>2010</strong> | <strong>Romanian</strong> <strong>Prader</strong> <strong>Willi</strong> <strong>Association</strong>
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