Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Germany
Italy
Poland
Spain
TREAT-HGPS
Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models

Project Coordinator

Fundación Centro nacional de Investigaciones Cardiovasculares Carlos III (CNIC)
Madrid
Spain

Partners

David Filgueiras Fundación Investigación Biomédica Hospital Clínico San Carlos Madrid, Spain
Ryszard Rzepecki University of Wroclaw Wroclaw, Poland
Giovanna Lattanzi CNR Institute of Molecular Genetics Bologna, Italy
Karima Djabali School of Medicine, Technical University of Munich Munich, Germany

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease (prevalence: 1 in 20 million) characterized by multiorgan defects, accelerated aging, and death at an average age of 14.6 years mainly from myocardial infarction or stroke. It is caused by a heterozygous de novo point mutation in the LMNA gene leading to the synthesis of progerin, a permanently farnesylated prelamin A mutant protein. HGPS has no cure and clinical trials targeting progerin farnesylation showed increased mean survival of only ~1.6 years in treated patients. It is therefore urgent to develop new strategies to treat or cure HGPS. 

E-Rare 2012 - Created by Toussaint Biger