7th International Workshop on Primary Hyperoxaluria

描述(由申请人提供)： 这是科学家和临床医生将于2004年10月8日至10日在明尼苏达州罗切斯特市的梅奥诊所举行的一系列研讨会中的第七次，这些研讨会将分享最近在原发性高草酸尿症(PH)和草酸盐介导的疾病方面的工作。原发性高草酸尿症是一种罕见的常染色体隐性遗传病，有一个由科学家和临床医生组成的社区致力于研究和护理受影响的患者。这个由分子遗传学家、生理学家、蛋白质化学家、流行病学家、肾病学家、泌尿科医生和移植外科医生组成的社区规模小、性质多样，因此专注的研讨会对于将他们聚集在一起是必不可少的。前几次研讨会的特点是公开讨论、迅速传播新成果以及成功地促进国际合作。专门为患者及其家属设计的会议是2004年研讨会的一个新成员。目的：a)明确原发性高草酸尿症的分子基础、与这种疾病相关的组织损伤的原因，并审查新的治疗方法；b)促进国际基础科学家和临床医生小组之间的讨论，从而促进科学合作；c)促进参与新的遗传性尿钙结石国际登记；以及d)为患者及其家人提供直接和准确的信息，与这种疾病的专家互动，以及一个同行支持的论坛。 将涵盖的主题包括AGT基因组学的最新进展，以及基因测试在预测临床病程和指导治疗方面的新作用，来自PH登记数据的见解，草酸对细胞和组织的损伤机制，治疗的分子方法，以及有前景的新疗法。患者和家庭会议将集中在PH的原因、基因测试、治疗和有前途的研究的新领域。最近AGT蛋白的结晶，以及在PH的分子遗传学、诊断测试和药物基因组学方面的进展，使2004年成为第七次研讨会令人兴奋的一年。

DESCRIPTION (provided by applicant): This is the seventh in a series of workshops for scientists and clinicians to share recent work in primary hyperoxaluria (PH) and oxalate-mediated disease to be held October 8-10, 2004 at Mayo Clinic in Rochester, Minnesota. The primary hyperoxalurias are rare, autosomal recessive disorders, with a community of scientists and clinicians dedicated to research and care for affected patients. The small size and diverse nature of this community of molecular geneticists, physiologists, protein chemists, epidemiologists, nephrologists, urologists, and transplant surgeons is such that focused workshops are essential to bring them together. Previous workshops have been marked by open discussion, rapid dissemination of new results, and successful stimulation of international collaboration. Sessions expressly designed for patients and their families are a novel addition to the 2004 Workshop. Objectives: a) Define the state of the art of the molecular basis of primary hyperoxaluria, causes of tissue injury associated with this disease, and review new approaches to treatment, b) Promote discussion between an international group of basic scientists and clinicians, thereby fostering scientific collaboration, c) Promote participation in the new international Registry for Inherited Calcium Urolithiasis, and d) Provide patients and their families direct and accurate information, interaction with experts in this disease, and a forum for peer support. Topics to be covered include recent advances in AGT genomics and the emerging role of genetic testing for predicting clinical course and guiding therapy, insights from PH registry data, mechanisms of oxalate injury of cells and tissues, molecular approaches to treatment, and promising new therapeutics. Patient and family sessions will focus on the cause of PH, genetic testing, treatments, and new areas of promising research. Recent crystallization of the AGT protein, and advances in the molecular genetics, diagnostic testing, and pharmacogenomics of PH make 2004 an exciting year for the 7th Workshop.