Biannual von Hippel Lindau Family Alliance Medical Meeting

University Of Tx Md Anderson Can Ctr, Houston TX

Investigators

Abstract

DESCRIPTION (provided by applicant): Management of von Hippel Lindau disease (VHL) has evolved fairly slowly over the past 100 years. Research into VHL has found it to be a 213 amino acid protein which is involved in a number of critical cellular functions, including hypoxia gene regulation, cilia centrosome cycle control, co-regulation of cell cycle via p53 protein, and management of extracellular matrix proteins, including collagen IV and fibronectin. It is no surprise that mutations in VHL result in protean disorders within the individuals with the hereditary form of the disease, including cerebellar and spinal hemangioblastomas, clear cell renal cell carcinomas (RCC), pheochromocytomas, pancreatic cysts and pancreatic neuroendocrine tumors. It is important to note that sporadic clear cell RCC also harbors a somatic VHL mutation in over 80 percent of cases, creating synergy in the research efforts into both diseases. The VHL Family Alliance was established in 1994, and has been at the forefront of coordinating patients, families and researchers around the world to treat VHL. As part of their mission, they have sponsored biannual medical research meetings, which rotate amongst countries around the world, to assist in bringing together basic scientists, translational researchers and physicians treating VHL. The current meeting is the latest in this series. The last five years have seen a rapid expansion in our knowledge of VHL protein function as well as in potential therapeutics to treat the disease. The purpose of this meeting is to bring together the very best researchers in the field to discuss progress in our understanding of the VHL protein, and to develop infrastructure to accelerate research into VHL disease. As a result of this meeting, we expect to see new research teams emerge focusing on specific aspects of VHL function, as well as on various novel treatment avenues, with the goal of achieving a meaningful impact on therapeutic options within the next five years. PUBLIC HEALTH RELEVANCE: Diseases caused by von Hippel Lindau disease, a hereditary disorder that disrupts a key cellular protein, can have devastating consequences on the health of individuals carrying this mutation. Coordinating research into von Hippel Lindau disease will aid in the discovery of new treatments for these individuals.