EuroGeBeta

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.