HUMAN DISORDERS OF COPPER METABOLISM: RECENT ADVANCES AND MAIN CHALLENGES

描述（由申请人提供）：铜是中枢神经系统发育、正常心脏和肝脏功能、血管生成、免疫反应和许多其他生理过程所必需的基本元素。铜缺乏与心脏肥大、大脑形态和功能病变有关，而过量的铜会破坏器官功能，导致肝肾损伤和神经功能障碍。疾病诊断的最新进展显著扩大了与铜代谢异常相关的疾病范围。因此，需要更好地了解人体铜代谢在健康和疾病中的机制大大增加。本次研讨会将是第一次专门关注与铜代谢异常相关的人类疾病谱系和铜依赖性病理背后的机制的会议。将确定与铜相关疾病的诊断和治疗相关的问题，以指导机制研究。会议将介绍临床、基础科学和患者的观点；讲习班的成果/结论将分发给所有三个小组。

DESCRIPTION (provided by applicant): Copper is an essential element that is necessary for the development of central nervous system, normal heart and liver functions, angiogenesis, immune response and many other physiologic processes. Copper deficiency is associated with cardiac hypertrophy, morphologic and functional pathologies in the brain, whereas excess copper disrupts organ function resulting in liver and kidney damage and neurologic impairment. Recent progress in disease diagnoses has significantly expanded the spectrum of disorders associated with abnormalities of copper metabolism. As a result, the need for beter mechanistic understanding of human copper metabolism in health and disease has greatly increased. This workshop would be the first meeting to specifically focus on the spectrum of human disorders associated with abnormalities of copper metabolism and the mechanisms behind copper-dependent pathologies. The issues related to diagnoses and treatment of copper-related disorders will be identified to guide mechanistic studies. Clinical, Basic Science and Patients perspective wil be presented at the meeting; the outcomes/conclusions of the workshop will be disseminated to all three groups.