{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:25:49Z","timestamp":1772166349030,"version":"3.50.1"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T00:00:00Z","timestamp":1721779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T00:00:00Z","timestamp":1721779200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      This\n                      <jats:italic>desideratum<\/jats:italic>\n                      is addressed by the Digital Atlas of Ancient Rare Diseases (DAARD:\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/daard.dainst.org\">https:\/\/daard.dainst.org<\/jats:ext-link>\n                      ), 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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>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\u2013time 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03280-0","type":"journal-article","created":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T22:02:07Z","timestamp":1721772127000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3493-2757","authenticated-orcid":false,"given":"Julia","family":"Gresky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melina","family":"Frotscher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliane","family":"Dorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Scheelen-Nov\u00e1\u010dek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yannick","family":"Ahlbrecht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Jakob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toni","family":"Sch\u00f6nbuchner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Canalejo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Ducke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuele","family":"Petiti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"issue":"4","key":"3280_CR1","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1002\/ajpa.1330750412","volume":"75","author":"DW Frayer","year":"1988","unstructured":"Frayer DW, Macchiarelli R, Mussi M. A case of Chondrodystrophic Dwarfism in the Italian late Upper Paleolithic. Am J Phys Anthropol. 1988;75(4):549\u201365.","journal-title":"Am J Phys Anthropol"},{"key":"3280_CR2","first-page":"3","volume":"8","author":"J Gresky","year":"2020","unstructured":"Gresky J, Sokiranski R, Witzmann F, Petiti E. The oldest case of osteopetrosis in a human skeleton: exploring the history of Rare diseases. Lancet DE. 2020;8:3.","journal-title":"Lancet DE"},{"key":"3280_CR3","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.ijpp.2021.03.003","volume":"33","author":"J Gresky","year":"2021","unstructured":"Gresky J, Dorn J, Te\u00dfmann B, Petiti E. How rare is rare? A literature survey of the last 45 years of paleopathological research on ancient rare diseases. Int J Paleopathol. 2021;33:94\u2013102.","journal-title":"Int J Paleopathol"},{"key":"3280_CR4","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.ijpp.2021.05.008","volume":"34","author":"N Berezina","year":"2021","unstructured":"Berezina N, Buzhilova A. Rare cases of Rare Diseases: re-examining early 20th century cases of Anencephaly from the Collection of the Moscow State University, Russia. Int J Paleopathol. 2021;34:12\u20139.","journal-title":"Int J Paleopathol"},{"issue":"1","key":"3280_CR5","first-page":"53","volume":"60","author":"FT Horan","year":"1978","unstructured":"Horan FT, Beighton PH. Osteopetrosis in the Fairbank Collection. J Bone Joint Surg. 1978;60(1):53\u20135.","journal-title":"J Bone Joint Surg"},{"issue":"4","key":"3280_CR6","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.ajhg.2009.09.003","volume":"85","author":"S K\u00f6hler","year":"2009","unstructured":"K\u00f6hler S, Schulz MH, Krawitz P, Bauer S, D\u00f6lken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies. AJHG. 2009;85(4):457\u201364.","journal-title":"AJHG"},{"issue":"D1","key":"3280_CR7","doi-asserted-by":"publisher","first-page":"D865","DOI":"10.1093\/nar\/gkw1039","volume":"45","author":"S K\u00f6hler","year":"2017","unstructured":"K\u00f6hler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aym\u00e9 S, Baynam G, et al. The human phenotype ontology in 2017. Nucleic Acids Res. 2017;45(D1):D865\u201376.","journal-title":"Nucleic Acids Res"},{"key":"3280_CR8","first-page":"e2500","volume":"1","author":"R Dragusin","year":"2013","unstructured":"Dragusin R, Petcu P, Lioma Ch, Larsen B, J\u00f8rgensen HL, Cox I, Hansen LK, Ingwersen P, Winther O. Specialised tools are needed when searching the web for rare disease diagnoses. Rare Dis. 2013;1:e2500.","journal-title":"Rare Dis"},{"issue":"6","key":"3280_CR9","first-page":"528","volume":"82","author":"R Dragusin","year":"2013","unstructured":"Dragusin R, Petcu P, Lioma Ch, Larsen B, J\u00f8rgensen HL, Cox I, Hansen LK, Ingwersen P, Winther O. FindZebra: a search engine for Rare diseases. IJMI. 2013;82(6):528\u201338.","journal-title":"IJMI"},{"key":"3280_CR10","volume-title":"University Honors Capstone","author":"C Kimock","year":"2013","unstructured":"Kimock C. Descriptions of Dwarfism in the skeletons of two individuals from the Robert J. Terry Anatomical Skeletal Collection. University Honors Capstone. Washington, D.C.: American University; 2013."},{"key":"3280_CR11","doi-asserted-by":"publisher","first-page":"214","DOI":"10.3390\/genes8090214","volume":"8","author":"L Boer","year":"2017","unstructured":"Boer L, Naue J, de Rooy L, Oostra R-J. Detection of G1138A mutation of the FGFR3 gene in tooth material from a 180-Year-old museological Achondroplastic Skeleton. Genes. 2017;8:214.","journal-title":"Genes"},{"key":"3280_CR12","volume-title":"Small people - great Art\/Restricted growth from an artistic and medical viewpoint","author":"A Enderle","year":"1994","unstructured":"Enderle A, Meyerh\u00f6fer D, Unverfehrt G. Small people - great Art\/Restricted growth from an artistic and medical viewpoint. Hamm: Artcolor; 1994."},{"issue":"3","key":"3280_CR13","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1017\/S0025727300048237","volume":"32","author":"V Dasen","year":"1988","unstructured":"Dasen V. Dwarfism in Egypt and classical antiquity: Iconography and Medical History. Med Hist. 1988;32(3):253\u201376.","journal-title":"Med Hist"},{"issue":"4","key":"3280_CR14","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1002\/ajmg.a.31068","volume":"140A","author":"Kozma Ch","year":"2006","unstructured":"Kozma Ch. Dwarfs in ancient Egypt. Am J Med Genet. 2006;140A(4):303\u201311.","journal-title":"Am J Med Genet"},{"key":"3280_CR15","unstructured":"Bacon WJ. The Dwarf Motif in Classic Maya Monumental Iconography: A Spatial Analysis. PhD thesis. University of Pennsylvania, Department of Anthropology; 2007."},{"issue":"3","key":"3280_CR16","doi-asserted-by":"publisher","first-page":"212","DOI":"10.25100\/cm.v43i3.1158","volume":"43","author":"CA Rodr\u00edguez","year":"2012","unstructured":"Rodr\u00edguez CA, Isaza C, Pachajoa H. Achondroplasia among ancient populations of Mesoamerica and South America: Iconographic and Archaeological evidence. Colomb Med. 2012;43(3):212\u20135.","journal-title":"Colomb Med"},{"issue":"2","key":"3280_CR17","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<100::AID-AJMG3>3.0.CO;2-W","volume":"77","author":"R-J Oostra","year":"1998","unstructured":"Oostra R-J, Baljet B, Dijkstra PF, Hennekam RCM. Congenital anomalies in the Teratological Collection of Museum Vrolik in Amsterdam, the Netherlands. I: syndromes with multiple congenital anomalies. Am J Med Genet. 1998;77(2):100\u201315.","journal-title":"Am J Med Genet"},{"key":"3280_CR18","first-page":"75","volume-title":"Guidelines. Care for human remains in museums and collections","author":"S Fr\u00fcndt","year":"2021","unstructured":"Fr\u00fcndt S, Schiffels S, Winkelmann A. Ways of analyzing human remains and the benefits for scientific research. editor. Guidelines. Care for human remains in museums and collections. Berlin: German Museum Association; 2021. pp. 75\u201384. German Museum Association."},{"key":"3280_CR19","first-page":"461","volume-title":"Osteologische Pal\u00e4opathologie. Ein Handbuch f\u00fcr Anthropologen, Mediziner Und Arch\u00e4ologen","author":"J Gresky","year":"2022","unstructured":"Gresky J. Fehlbildungen und seltene Krankheiten. In: Weber J, Wahl J, Zink A, editors. Osteologische Pal\u00e4opathologie. Ein Handbuch f\u00fcr Anthropologen, Mediziner Und Arch\u00e4ologen. Berlin: Lehmanns; 2022. pp. 461\u201388."},{"key":"3280_CR20","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.ijpp.2022.06.002","volume":"38","author":"AT Boutin","year":"2022","unstructured":"Boutin AT, Longo CM, Lehnhard R. The role of case studies in recent paleopathological literature: an argument for continuing relevance. Int J Paleopathol. 2022;38:45\u201354.","journal-title":"Int J Paleopathol"},{"key":"3280_CR21","unstructured":"https:\/\/www.publisso.de\/en\/research-data-management\/fair-principles (accessed January 26, 2024)."},{"issue":"7812","key":"3280_CR22","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1038\/s41586-020-2378-6","volume":"582","author":"LM Cassidy","year":"2020","unstructured":"Cassidy LM, Maold\u00fain RO, Kador T, Lynch A, Jones C, Woodman PC, Murphy E, et al. A Dynastic Elite in Monumental Neolithic Society. Nature. 2020;582(7812):384\u201388.","journal-title":"Nature"},{"key":"3280_CR23","doi-asserted-by":"publisher","first-page":"1294","DOI":"10.1038\/s41467-024-45438-1","volume":"15","author":"AB Rohrlach","year":"2024","unstructured":"Rohrlach AB, Rivollat M, de-Miguel-Ib\u00e1\u00f1ez P, Moilanen U, Liira A-M, Teixeira JC, Roca-Rada X, et al. Cases of Trisomy 21 and Trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nat Commun. 2024;15:1294.","journal-title":"Nat Commun"},{"issue":"1","key":"3280_CR24","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1038\/s42003-023-05642-z","volume":"7","author":"K Anastasiadou","year":"2024","unstructured":"Anastasiadou K, Silva M, Booth T, Speidel L, Audsley T, Barrington C, Buckberry J, et al. Detection of chromosomal aneuploidy in ancient genomes. Commun Biol. 2024;7(1):14.","journal-title":"Commun Biol"},{"key":"3280_CR25","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.ijpp.2014.05.004","volume":"7","author":"M Rivollat","year":"2014","unstructured":"Rivollat M, Castex D, Hauret L, Tiller A-M. Ancient down syndrome: an osteological case from Saint-Jean-des-Vignes, northeastern France, from the 5\u20136th century AD. Int J Paleopathol. 2014;7:8\u201314.","journal-title":"Int J Paleopathol"},{"key":"3280_CR26","doi-asserted-by":"crossref","unstructured":"Gresky J. Assessing autosomal Aneuploidy in Ancient genomes. TiG. 2024. S0168952524000805.","DOI":"10.1016\/j.tig.2024.04.006"},{"key":"3280_CR27","first-page":"1","volume":"42","author":"U Halle","year":"2019","unstructured":"Halle U, H\u00e4hn C, Krause S, Krause-Kyora B, Nothnagel M, Drichel D, Wahl J. Die Unsichtbaren. Menschen Mit Trisomie 21 in Arch\u00e4ologie Und Anthropologie. Arch Inf. 2019;42:1\u201317.","journal-title":"Arch Inf"},{"key":"3280_CR28","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","volume":"104","author":"U Kornak","year":"2001","unstructured":"Kornak U, Kasper D, B\u00f6sl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001;104:205\u201315.","journal-title":"Cell"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03280-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03280-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03280-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T22:04:06Z","timestamp":1721772246000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03280-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,24]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3280"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03280-0","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3950183\/v1","asserted-by":"object"}]},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,24]]},"assertion":[{"value":"11 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"277"}}