Science
Ancient DNA From Ice Age Burial Solves 12,000-Year-Old Mystery of Rare Genetic Disorder
DNA extracted from a 12,000-year-old double burial in southern Italy has revealed that a mother and daughter both carried mutations causing a rare skeletal growth disorder. The discovery marks the earliest genetic diagnosis of its kind and offers a window into prehistoric community care.
Key Takeaways
- DNA from a 12,000-year-old burial in Italy confirms the earliest genetic diagnosis of a rare skeletal growth disorder
- A mother and daughter both carried NPR2 gene mutations causing acromesomelic dysplasia, Maroteaux type
- The daughter's survival into young adulthood suggests sustained community care in the Ice Age
- The finding demonstrates rare genetic diseases existed in human populations during the late Pleistocene
- The study was published in the New England Journal of Medicine in February 2026
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