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 these date to relatively recent periods. However, cases of rare diseases detected in mummies and skeletal remains 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 from all over the world and throughout all historic and prehistoric time periods. Disease or individual data, the preservation level of human remains, research methodology, and information about places of curation and literature references are easy to search for. In this manuscript, the design and functionality of the DAARD are illustrated through the example 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 research avenues. The number of rare diseases can increase by adding new cases from a variety of 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 helps them to build identity and reveal an aspect of their rare disease that they may not have been previously aware of. Thus, the DAARD contributes to the understanding of rare diseases from a long-term perspective and adds to the latest relevant research.