Biannual von Hippel Lindau Family Alliance Medical Meeting

描述（由申请人提供）：在过去的100年里，von Hippel Lindau病（VHL）的治疗发展相当缓慢。对VHL的研究发现，它是一种213个氨基酸的蛋白质，参与许多关键的细胞功能，包括缺氧基因调节，纤毛中心体周期控制，通过p53蛋白共同调节细胞周期，以及细胞外基质蛋白的管理，包括胶原IV和纤维连接蛋白。毫无疑问，VHL的突变会导致遗传性VHL患者的蛋白质紊乱，包括小脑和脊髓血管母细胞瘤、透明细胞肾细胞癌（RCC）、嗜铬细胞瘤、胰腺囊肿和胰腺神经内分泌肿瘤。值得注意的是，散发性透明细胞RCC在80%以上的病例中也含有体细胞VHL突变，这在两种疾病的研究工作中产生了协同作用。VHL家庭联盟成立于1994年，一直站在协调世界各地患者、家庭和研究人员治疗VHL的最前沿。作为其使命的一部分，他们赞助了每两年举行一次的医学研究会议，这些会议在世界各国轮流举行，以协助将治疗VHL的基础科学家、转化研究人员和医生聚集在一起。本次会议是本系列会议的最新一次。在过去的五年中，我们对VHL蛋白功能以及治疗该疾病的潜在治疗方法的了解迅速扩大。本次会议的目的是汇集该领域最优秀的研究人员，讨论我们对VHL蛋白的理解进展，并开发基础设施以加速对VHL疾病的研究。作为这次会议的结果，我们希望看到新的研究团队出现，专注于VHL功能的特定方面，以及各种新的治疗途径，目标是在未来五年内对治疗方案产生有意义的影响。

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.