Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.
Ital J Pediatr. 2010 Feb 19;36:20. doi: 10.1186/1824-7288-36-20.
We focus on themes that are derived from clinical practice and research in the field of genetic diseases of bone and inborn errors of metabolism but may be of more general interest as they indicate some trends in molecular medicine as related to pediatrics. Identifying the disease-causing mechanism brings about efficient therapeutic strategies and discovering the mutant genotype in the near future may become helpful for devising custom-built molecular responses. At the same time, the transition of therapy from the experimental phase to industrial application is difficult as there may be novel roles (and potentially conflicting interests) between physicians, patient organisations, governmental agencies and the pharmaceutical industry. Awareness of these potential conflicts may help in recognizing and dealing with these issues.
我们专注于源自骨遗传病和先天性代谢错误领域的临床实践和研究的主题，但这些主题可能更具普遍意义，因为它们表明了与儿科相关的分子医学的一些趋势。确定致病机制可带来有效的治疗策略，而在不久的将来发现突变基因型可能有助于设计定制的分子反应。与此同时，由于医生、患者组织、政府机构和制药行业之间可能存在新的角色（以及潜在的利益冲突），治疗从实验阶段向工业应用的转变是困难的。意识到这些潜在的冲突可能有助于认识和处理这些问题。
