Edwards Syndrome and Down Syndrome Identified in Ancient DNA


Researchers from the Max Planck Institute for Evolutionary Anthropology (MPI-EVA) have been collecting and analyzing data on ancient DNA for years. This DNA has given the researchers a stronger understanding of how people moved throughout the world and what potential pathogens they came in contact with. However, shares an article from the MPI-EVA, the researchers realized that there had never been a review of the prevalence of chromosomal disorders. 

To begin, the research team decided to search through the database with a specific focus on identifying Down syndrome. Also known as trisomy 21, Down syndrome is a lifelong condition in which someone is born with an extra chromosome 21. An estimated 1 in every 700 babies in the United States today is born with Down syndrome. 

After scanning through data on around 10,000 ancient people from around the globe, researchers identified six children with Down syndrome. Five of these children were born between 2,500 – 5,000 years ago at Bronze or Iron Age sites in Greece, Bulgaria, or Spain, with one born in the 17th or 18th century in Finland. These children unfortunately died prematurely, with only one child making it to one year old and the rest dying earlier. Because items like seashells or beaded jewelry were found with the bodies, the research team believes that these children were loved and cared for by their communities. 

Not Just Down Syndrome…

Interestingly, the study also uncovered one individual who had a different chromosomal disorder called Edwards syndrome, or Trisomy 18. This child was discovered at one of the same Iron Age sites in Spain as at least one child with Down syndrome. The researchers note that only privileged children were buried in houses after they died. This suggests, to the research team, that these children were also seen as special. Moving forward, the researchers hope to learn more about how these children were perceived and what other conditions might have been present.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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