PDF(Pubmed)
Abstract：
BACKGROUND: The history of rare diseases is largely unknown. Research on this topic has focused on individual cases of prominent (historical) individuals and artistic (e.g., iconographic) representations. Medical collections include large numbers of specimens that exhibit signs of rare diseases, but most of them date to relatively recent periods. However, cases of rare diseases detected in mummies and skeletal remains derived from archaeological excavations have also been recorded. Nevertheless, this direct evidence from historical and archaeological contexts is mainly absent from academic discourse and generally not consulted in medical research on rare diseases.
RESULTS: This desideratum is addressed by the Digital Atlas of Ancient Rare Diseases (DAARD: https://daard.dainst.org ), which is an open access/open data database and web-based mapping tool that collects evidence of different rare diseases found in skeletons and mummies globally and throughout all historic and prehistoric time periods. This easily searchable database allows queries by diagnosis, the preservation level of human remains, research methodology, place of curation and publications. In this manuscript, the design and functionality of the DAARD are illustrated using examples of achondroplasia and other types of stunted growth.
CONCLUSIONS: As an open, collaborative repository for collecting, mapping and querying well-structured medical data on individuals from ancient times, the DAARD opens new avenues of research. Over time, the number of rare diseases will increase through the addition of new cases from varied backgrounds such as museum collections and archaeological excavations. Depending on the research question, phenotypic or genetic information can be retrieved, as well as information on the general occurrence of a rare disease in selected space-time intervals. Furthermore, for individuals diagnosed with a rare disease, this approach can help them to build identity and reveal an aspect of their condition they might not have been aware of. Thus, the DAARD contributes to the understanding of rare diseases from a long-term perspective and adds to the latest medical research.
RESULTS: This desideratum is addressed by the Digital Atlas of Ancient Rare Diseases (DAARD: https://daard.dainst.org ), which is an open access/open data database and web-based mapping tool that collects evidence of different rare diseases found in skeletons and mummies globally and throughout all historic and prehistoric time periods. This easily searchable database allows queries by diagnosis, the preservation level of human remains, research methodology, place of curation and publications. In this manuscript, the design and functionality of the DAARD are illustrated using examples of achondroplasia and other types of stunted growth.
CONCLUSIONS: As an open, collaborative repository for collecting, mapping and querying well-structured medical data on individuals from ancient times, the DAARD opens new avenues of research. Over time, the number of rare diseases will increase through the addition of new cases from varied backgrounds such as museum collections and archaeological excavations. Depending on the research question, phenotypic or genetic information can be retrieved, as well as information on the general occurrence of a rare disease in selected space-time intervals. Furthermore, for individuals diagnosed with a rare disease, this approach can help them to build identity and reveal an aspect of their condition they might not have been aware of. Thus, the DAARD contributes to the understanding of rare diseases from a long-term perspective and adds to the latest medical research.
摘要：
背景：罕见疾病的病史在很大程度上是未知的。对这一主题的研究集中在突出(历史)个人和艺术(例如，图标)表示。医学收藏包括大量表现出罕见疾病迹象的标本，但其中大多数可以追溯到相对较新的时期。然而,在木乃伊和考古发掘遗骸中发现的罕见疾病病例也已记录。然而，这种来自历史和考古背景的直接证据主要不存在于学术讨论中，通常在罕见疾病的医学研究中也没有参考。
结果：古代罕见疾病数字地图集（DAARD：https://daard。dainst.org),这是一个开放获取/开放的数据数据库和基于网络的绘图工具，收集在全球和所有历史和史前时期的骨骼和木乃伊中发现的不同罕见疾病的证据。这个易于搜索的数据库允许通过诊断进行查询，人类遗骸的保存水平，研究方法,策展和出版物的地方。在这份手稿中,DAARD的设计和功能使用软骨发育不全和其他类型的发育迟缓的例子进行说明。
结论：作为开放，用于收集的协作存储库，映射和查询结构良好的医疗数据，DAARD开辟了新的研究途径。随着时间的推移,通过增加来自不同背景的新病例，如博物馆收藏和考古发掘，罕见疾病的数量将增加。根据研究问题，可以检索表型或遗传信息，以及在选定的时空间隔内罕见疾病一般发生的信息。此外，对于被诊断患有罕见疾病的人来说，这种方法可以帮助他们建立身份，并揭示他们可能没有意识到的状况。因此，DAARD有助于从长期角度理解罕见疾病，并增加了最新的医学研究。
结果：古代罕见疾病数字地图集（DAARD：https://daard。dainst.org),这是一个开放获取/开放的数据数据库和基于网络的绘图工具，收集在全球和所有历史和史前时期的骨骼和木乃伊中发现的不同罕见疾病的证据。这个易于搜索的数据库允许通过诊断进行查询，人类遗骸的保存水平，研究方法,策展和出版物的地方。在这份手稿中,DAARD的设计和功能使用软骨发育不全和其他类型的发育迟缓的例子进行说明。
结论：作为开放，用于收集的协作存储库，映射和查询结构良好的医疗数据，DAARD开辟了新的研究途径。随着时间的推移,通过增加来自不同背景的新病例，如博物馆收藏和考古发掘，罕见疾病的数量将增加。根据研究问题，可以检索表型或遗传信息，以及在选定的时空间隔内罕见疾病一般发生的信息。此外，对于被诊断患有罕见疾病的人来说，这种方法可以帮助他们建立身份，并揭示他们可能没有意识到的状况。因此，DAARD有助于从长期角度理解罕见疾病，并增加了最新的医学研究。
