Testing the Digital Atlas of Ancient Rare Diseases (DAARD) using a new case of Legg-Calvé-Perthes disease from Early Byzantine (500-700 CE) Olympia, Greece.

OBJECTIVE: The first case of Legg-Calvé-Perthes disease (LCPD) in Greece is presented. LCPD, a rare disease, is discussed using the Digital Atlas of Ancient Rare Diseases (DAARD), which tests the benefits of the database for diagnosing and contextualizing the new case with 42 archaeological cases of LCPD recorded in the DAARD. MATERIALS: A 30-40-year-old, probable male individual was found at the archaeological site of Olympia, Greece, dating to 500-700 CE. METHODS: Biological sex, age-at-death and pathological changes were investigated using macroscopic and osteometric methods. The DAARD provided the typical characteristics of LCPD. RESULTS: Pathological changes in both hip joints without any other related changes in the skeleton corresponded to the skeletal features of LCPD. The DAARD produced 42 cases of LCPD, most of which from Europe, with a preference for male sex and unilateral involvement of the hip joint. CONCLUSIONS: The DAARD aids in diagnosing rare diseases and interpreting new cases in the context of already known studies. SIGNIFICANCE: This study shows that the DAARD has the potential to help researchers move beyond the level of single case studies and create a broader picture of the history of rare diseases. LIMITATIONS: This paper focuses on the benefits of the DAARD in relation to LCPD but not all rare diseases have been included in the database. SUGGESTIONS FOR FURTHER RESEARCH: More rare diseases from archaeological contexts should be added to the DAARD to create a base for the interpretation of their history and expand our understanding of rare diseases in the past.

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

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.