Ancient DNA reveals 12,000-year-old case of rare genetic disease

Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who lived more than 12,000 years ago. Using ancient DNA analysis and modern clinical genetics, they diagnosed the condition in a mother and daughter buried together in southern Italy. Published in the New England Journal of Medicine, the study shows that paleogenomics can now reconstruct ancient population history and diagnose rare genetic diseases in prehistoric individuals.