Congenital Hypoglycemia Disorders: Hyperinsulinism and Glycogen Storage Diseases

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Linked publications, trials & patents

Abstract

? DESCRIPTION (provided by applicant): Hypoglycemia is an important cause of morbidity in neonates, infants and children. Up to 50% of children with congenital hypoglycemia disorders suffer from long-term neurodevelopmental disabilities. Recent advances in the understanding of the molecular genetics and pathophysiology of these disorders promise to improve these outcomes by allowing for the development of early diagnostic tools and improved therapies. Moreover, the discoveries of new genetic defects involved in the pathogenesis of these disorders broaden our understanding of normal regulation of carbohydrates metabolism in humans. This proposal seeks support for an international conference: Congenital Hypoglycemia Disorders: Hyperinsulinism and Glycogen Storage Diseases, which will be held at The Children's Hospital of Philadelphia on April 14-15, 2016. The purpose of this conference is to bring together a group of experts from around the world to promote a scientific dialogue and to stimulate the development of new collaborations. In addition, the meeting will involve sessions aimed to educate and update clinicians involved in the care of these children. One of the missions of this conference is the fostering of a new generation of clinicians and scientists with interest in this field. To accomplish this mission, we are requesting support to offer travel funds to junior investigators and trainees to attend the conference. This conference will be the third conference organized and hosted by the Children's Hospital of Philadelphia Congenital Hyperinsulinism Center. We have developed a comprehensive, multidisciplinary program that includes lectures in basic pathophysiology, diagnosis, natural history, current and investigational therapies. This program will be of interest to both basic scientists and clinicians. The invited speakers, who represent the major contributors to the field, will present the status of current knowledge on islet biochemistry and regulation, as well as pathophysiology, clinical features, and management of the various disorders of congenital hyperinsulinism and glycogen storage diseases.