The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research

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.

Keywords: Achondroplasia; Archaeology; Database; FAIR principle; History; Medical collections; Paleopathology; Short stature; Stunted growth.

Fig. 1

Individuals with short stature recorded in the DAARD (achondroplasia (n = 30) in red, hypopituitarism (n = 9) in orange, trisomy 21 (n = 9) in green, trisomy 18 (n = 1) in turquois, and Turner syndrome (n = 2) in purple). Some dots represent several individuals which become visible when zooming in

Fig. 2

Distribution of A) age and B) sex among the 30 individuals affected by achondroplasia: recorded in the DAARD, as well as C) their geographic location. Some dots represent several individuals which become visible when zooming in

Fig. 3

Comparison of bone preservation and affected bones in achondroplastic individuals from Egypt: recorded in the DAARD

Fig. 4

Summary of the workflow of the DAARD, illustrating its two main functions: data search and retrieval, and data feeding