Unraveling the Mysteries of Down Syndrome and Edwards Syndrome in Past Societies
Decoding Ancient DNA: Insights into Chromosomal Disorders
Ancient DNA analysis1 unveils chromosomal disorders in prehistoric human populations across Spain, Bulgaria, Finland, and Greece dating back to 4,500 years ago. Led by Dr. Adam "Ben" Rohrlach and Dr. Kay Prüfer, an international team scrutinized approximately 10,000 ancient human DNA samples, revealing six cases of Down syndrome and one of Edwards syndrome.
Unearthing Chromosomal Anomalies
Using a novel Bayesian model, researchers screened ancient DNA from Mesolithic to mid-1800s remains, detecting individuals with autosomal trisomies. This groundbreaking approach, spearheaded by Dr. Rohrlach, identified individuals carrying an extra chromosome 21, indicative of Down syndrome, and one case of Edwards syndrome, marked by an additional chromosome 18. These findings challenge previous assumptions, as chromosomal disorders couldn't be diagnosed through skeletal remains alone.
Cultural Significance and Careful Burials
Despite their conditions, individuals with Down syndrome were buried with reverence, often accompanied by special grave goods. Lead osteologist Dr. Patxuka de-Miguel-Ibáñez highlights the absence of distinctive skeletal abnormalities, underscoring the importance of genetic screening for diagnosis. Notably, the only Edwards syndrome case was found in an Early Iron Age Spanish settlement, suggesting a deliberate selection of these infants for unique burials within homes or significant structures.

Humanized Treatment in Death
The presence of individuals with chromosomal disorders in diverse cultural and temporal contexts underscores their acceptance and integration within ancient societies. Dr. Rohrlach emphasizes the communal acknowledgment of these individuals, dispelling misconceptions about their treatment. Professor Roberto Risch notes the intriguing burial practices, hinting at the societal significance of these infants despite uncertainties surrounding their survival.
A Collaborative Endeavor
Published in Nature Communications, this study represents a collaborative effort involving researchers from the University of Adelaide and the Max Planck Institute for Evolutionary Anthropology. By decoding ancient DNA, the research sheds light on the prevalence and cultural perceptions of chromosomal disorders in past human societies, enriching our understanding of ancient lifeways and human adaptability across millennia.
Rohrlach, A. B., Rivollat, M., de-Miguel-Ibáñez, P., Moilanen, U., Liira, A.-M., Teixeira, J. C., Roca-Rada, X., Armendáriz-Martija, J., Boyadzhiev, K., Boyadzhiev, Y., Llamas, B., Tiliakou, A., Mötsch, A., Tuke, J., Prevedorou, E.-A., Polychronakou-Sgouritsa, N., Buikstra, J., Onkamo, P., Stockhammer, P. W., … Prüfer, K. (2024). Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-45438-1