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.

France
Israel
Italy
Spain
EuroGeBeta
European network on genetics, pathophysiology and translational research into rare pancreatic beta-cell insufficiency diseases

Project Coordinator

CNRS Genomic and Molecular Physiology of Metabolic Diseases Biologie de Lille-Institut
Lille
France

Partners

Antonio Luis Cuesta-Munoz IMABIS Foundation Hospital Carlos Haya Center for the Study of Pancreatic B-Cell Disease Malaga, Spain
Christine Bellane-Echantelot AP.MP Groupe Hospitalier Pitié-Salpêtrière Department of Genetics Paris, France
Fabrizio Barbetti Bambino Gesù Pediatric Hospital, IRCCS Laboratory of Molecular Endocrinology and Metabolism Rome, Italy
Michel Polak Hôpital Necker - Enfants Malades ISERM U845 Pediatric Endocrinology Paris, France
Moshe Phillip Schneider Children Medical Center Lea Shafer Institute of Endocrinology and Diabetes Petah Tikva, Israel

The EuroGeBeta consortium will take root from a transnational European network gathering together six partners in France, Italy, Spain and Israel with complementary expertises in paediatric endocrinology, in genetic diagnosis and counselling, and in human genetics and genomic research applied to metabolic diseases. Our objectives are: 1/ to establish a transnational European phenotypic and molecular database of patients and families with non auto-immune neonatal/infancy/childhood pancreatic beta-cell insufficiency, 2/ to carry out latest state-of-the-art genomic studies (based on aCGH, genome-wide SNP scan and deep sequencing) to unravel novel genes and molecular pathways controlling insulin secretion, 3/ to characterize the clinical features associated with novel causative mutations, and the in vivo metabolic and therapeutic consequences, and finally 4/ to establish an integrated comprehensive multidisciplinary network for clinical and molecular diagnoses, genetic counselling and personalized treatment, transferring when possible basic genetic results into clinical practice. Our project should bring a better nosological reappraisal of these disorders, an improved prediction of disease progression and more appropriate treatment of the patients based on a pharmacogenomic medicine. The gene discovery from this project may also be of high value for further studies in adult common diabetes and in the inverse phenotype of hyperinsulinism and congenital hypoglycaemia.

E-Rare 2012 - Created by Toussaint Biger