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

Instituto Superiore di Sanita Ematologia, Oncologia e Medicina Molecolare


Hélène Cavé CHU Robert Debré Université Denis Diderot Paris VII Genetics Paris, France
Martin Zenker University Hospital of Erlangen University of Erlangen-Nuremberg Erlangen, Germany
Patrick Raynal INSERM U563 Centre de Physiopathologie de Toulouse-Purpan Toulouse, France
Reza AHMADIAN Heinrich Heine Medical Center Biochemistry and Molecular Biology II (IMBM) Düsseldorf, Germany
Ype Elgersma Erasmus University Center (EMC) Neuroscience Rotterdam, The Netherlands

A group of disorders caused by dysregulation of the RAS-MAPK signaling pathway has emerged. These rare disorders have overlapping features including reduced growth, facial dysmorphia, cardiac disease, variable cognitive deficits, and predisposition to specific malignancies. While research has provided insights into the molecular basis of these diseases, there are questions about pathogenesis that remain unanswered. This is due to the multifaceted biology of RAS signaling and the genetic heterogeneity underlying these disorders. Moreover, since the wide clinical spectrum and overlap of these conditions, a significant proportion of subjects does not have diagnosis and management is often slanted. Our goals are to explore further the disease pathogenesis by identifying novel disease genes and understand the molecular and cellular mechanisms involved, provide molecular epidemiology data, delineate genotype-phenotype correlations, and translate this information to the clinic by making available diagnostic and experimental tools to favor early diagnosis and development of novel therapies. Diagnostic criteria and molecular knowledge will be integrated to produce flow-charts for a decision-making support to clinicians. The studies proposed in this interdisciplinary network are required for effective and early diagnosis, and patient management and counseling, and will guide work directed to ameliorate aspects of these diseases, such as hypertrophic cardiomyopathy, reduced growth, predisposition to malignancies and cognitive impairments.

E-Rare 2012 - Created by Toussaint Biger