How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases

Gresky, Julia; Dorn, Juliane; Teßmann, Barbara; Petiti, Emmanuele

doi:10.1016/j.ijpp.2021.03.003

Cited by 13 publications

(7 citation statements)

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“…In the paleopathological literature, one of the most frequently recorded physical characteristics, which might be indicative of a rare disease, is short stature [3]. At present, 44 entries for diseases connected with short stature can be found in the DAARD (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…The diagnosis of rare diseases in ancient skeletal human remains is further complicated by the fact that formerly existing soft tissue changes are no longer observable, and no reference data from clinical and laboratory analyses are available. On the one hand, their low visibility results from a combination of missed diagnoses or misdiagnoses [3]. On the other hand, visibility is strongly dependent on the mode of publication, such as preferred article types and venues for publication.…”

Section: Problems In Diagnosing Diseases In Archaeological Human Remainsmentioning

confidence: 99%

“…These questions are not easy to answer because rare diseases are even less common in archaeological human remains than in modern contexts, and reports on rare diseases are often hidden in less accessible journals or mentioned as supplementary information in archaeological publications [3].…”

Section: Introductionmentioning

confidence: 99%

“…The enormous corpus of skeletons and mummies from archaeological contexts represents an invaluable source of knowledge that remains largely unexplored because better known and more widespread diseases [3] are prioritized over rare conditions. Furthermore, when present, most of the data are buried in unpublished (gray) literature, making them di cult to access.…”

Section: Introductionmentioning

confidence: 99%

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

Gresky,

Frotscher,

Dorn

et al. 2024

Preprint

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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.

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Section: Resultsmentioning

confidence: 99%

Section: Problems In Diagnosing Diseases In Archaeological Human Remainsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Gresky,

Frotscher,

Dorn

et al. 2024

Preprint

Self Cite

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“…However, osteological examinations are limited to detecting pathologies that manifest in skeletal tissue and the causes of skeletal lesions are often not simple to diagnose, as many can be expressions of different ailments. Additionally, rare diseases remain under-represented in bioarchaeological literature due to a combination of taphonomic, methodological and public visibility factors 4 , 5 . Hence, a multidisciplinary approach, such as integrating genetic, anthropological and archaeological data, can provide new insights into disease, and how it might have been perceived in past societies.…”

Section: Introductionmentioning

confidence: 99%

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Rohrlach,

Rivollat,

de-Miguel-Ibáñez

et al. 2024

Nat Commun

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Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice.

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Evolution to Revolution

Roberts¹

2023

Handbook of Archaeological Sciences

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How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases

Cited by 13 publications

References 50 publications

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

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

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Evolution to Revolution

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