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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Assessing autosomal aneuploidy in ancient genomes.

Julia Gresky1

  • 1German Archaeological Institute, Division of Natural Sciences, Berlin, Germany.

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|April 25, 2024
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Summary

Genetic analysis of ancient human remains reveals past aneuploidies, offering the sole reliable evidence of their historical presence. This breakthrough allows for exploring the history of rare diseases and the lives of affected individuals.

Keywords:
Digital Atlas of Ancient Rare Diseases (DAARD)Down syndromeEdwards’ syndromeancient rare diseases (ARD)paleopathologytrisomy

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Area of Science:

  • Paleogenetics
  • Human Genetics
  • Medical History

Background:

  • Aneuploidies, or abnormal chromosome numbers, are historically challenging to study in ancient populations.
  • Previous methods lacked the precision to reliably detect aneuploidies in ancient DNA.

Purpose of the Study:

  • To establish a reliable method for detecting aneuploidies in ancient human remains.
  • To enable the exploration of the historical prevalence and context of rare diseases.

Main Methods:

  • Utilizing advanced genetic techniques on ancient human skeletal or soft tissues.
  • Employing molecular assays to identify chromosomal abnormalities.

Main Results:

  • Successfully detected aneuploidies in ancient human samples, confirming their past existence.
  • Provided a foundation for investigating the historical trajectory of genetic disorders.

Conclusions:

  • Genetic analysis of ancient remains is the only definitive method to ascertain past aneuploidies.
  • This approach opens new avenues for understanding the social and historical dimensions of rare diseases.