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.

The Netherlands
European network on Noonan syndrome and related disorders

Project Coordinator

Istituto Superiore di Sanità


Martin Zenker Otto-von-Guericke University Magdeburg Magdeburg, Germany
Reza Ahmadian Heinrich-Heine University Düsseldorf Düsseldorf, Germany
Jeroen den Hertog Koninklijke Nederlandse Akademie van Wetenschappen Utrecht, The Netherlands
Helene Cavé CHU Robert Debré Paris, France
Armelle Yart INSERM Toulouse, France

RASopathies constitute a family of rare diseases affecting development and growth. These disorders include Noonan syndrome and an increasing number of clinically related conditions sharing dysregulation of RAS signaling as common pathogenetic mechanism. Major features include reduced growth, congenital heart disease, hypertrophic cardiomyopathy, cognitive deficits, facial dysmorphism, skeletal and hematologic anomalies, and variable predisposition to certain malignancies. Most of these disorders are genetically heterogeneous, and the partners of this Consortium have significantly contributed to our understanding of the molecular causes underlying these diseases, providing new tools for diagnosis and patient management. There are fundamental questions about pathogenesis, however, that still remain unanswered. Moreover, a large fraction of RASopathy cases does not have diagnosis or still remains unexplained molecularly. Goals of the proposed research are to explore further the molecular bases of these disorders by identifying novel disease genes and understand pathogenesis using complementary in silico, in vitro and in vivo models. Work will be directed to provide accurate molecular epidemiology data and delineate genotype-phenotype correlations that will help clinicians towards a timely diagnosis and a more effective patient management and risk assessment. Finally, we plan to validate compounds to restore proper RAS signaling as a new approach for the development of therapeutic interventions to ameliorate evolutive complications of these diseases.

E-Rare 2012 - Created by Toussaint Biger