A workshop(1) to share, consider and discuss the latest developments in understanding xeroderma pigmentosum and other human diseases caused by defects in nucleotide excision repair (NER) of DNA damage was held on September 21-24, 2010 in Virginia. It was attended by approximately 100 researchers and clinicians, as well as several patients and representatives of patient support groups. This was the third in a series of workshops with similar design and goals: to emphasize discussion and interaction among participants as well as open exchange of information and ideas. The participation of patients, their parents and physicians was an important feature of this and the preceding two workshops. Topics discussed included the natural history and clinical features of the diseases, clinical and laboratory diagnosis of these rare diseases, therapeutic strategies, mouse models of neurodegeneration, molecular analysis of accelerated aging, impact of transcriptional defects and mitochondrial dysfunction on neurodegeneration, and biochemical insights into mechanisms of NER and base excision repair.

中文翻译：

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着色性干皮病和人类过早衰老和 DNA 修复的其他疾病：分子给患者。


2010 年 9 月 21 日至 24 日在弗吉尼亚州举行了一次研讨会(1)，旨在分享、思考和讨论着色性干皮病和其他由 DNA 损伤的核苷酸切除修复 (NER) 缺陷引起的人类疾病的最新进展。大约 100 名研究人员和临床医生以及几名患者和患者支持团体的代表参加了此次会议。这是一系列具有类似设计和目标的研讨会中的第三次：强调参与者之间的讨论和互动以及信息和想法的公开交流。患者、患者家长和医生的参与是本次研讨会和前两次研讨会的一个重要特点。讨论的主题包括疾病的自然史和临床特征、这些罕见疾病的临床和实验室诊断、治疗策略、神经变性小鼠模型、加速衰老的分子分析、转录缺陷和线粒体功能障碍对神经变性的影响，以及神经变性的生化见解NER 和碱基切除修复机制。