Researchers Found One of the Earliest Genetic Evidence of a Human Disease

In a cave in southern Italy, archaeologists once discovered something that felt almost timeless. There were two bodies found together, embracing each other, preserved for approximately 12,000 years. For years, it has been considered a pathway into understanding the world of Upper Paleolithic burials. Yet a new genetic study has found a surprising, very human side to this story. When the bodies were first discovered in 1963, scientists thought they were a male and a female. With today’s DNA testing, it has been found that they were both female. One of these women, as researchers called Romito 2, immediately stood out as she was extremely short. According to Live Science, she was only 110 centimeters tall, or 3.6 feet.

Researchers were able to extract ancient DNA from the inner ear bones, which tend to preserve the genetic material particularly well. After sequencing, it was revealed that Romito 2 carried a mutation in the NPR2 gene, which is responsible for a rare inherited disorder called acromesomelic dysplasia, Maroteaux type (AMDM). The condition affects bone development and shortens the limbs to a large extent. The findings marked the earliest confirmed genetic diagnosis of a human disease using ancient DNA, as reported in a ScienceDaily article. Interestingly, Romito 1, who was buried beside her, measured about 145 centimeters in height, which was also relatively short. Genetic analysis showed that she carried only one copy of the same mutated gene, and while this would not cause the full disorder, it may explain her somewhat reduced height (ScienceDaily).


Romito 2 survived into adolescence, despite the challenges associated with AMDM, which made the discovery particularly significant . As seen in prehistoric hunter-gatherer communities, severe physical limitations could have made survival extremely difficult. Researchers, therefore, believe that members of her community most likely provided care and support, which allowed her to live well beyond early childhood. This finding adds to growing evidence that ancient human societies sometimes cared for individuals with disabilities, as noted by archaeologists. Similarly, conclusions have been drawn from studies of Neanderthal remains, which included a child with Down syndrome who appears to have received support from their group (Live Science).

Grotta del Romito has been known as an essential archaeological site with evidence of human presence dating back tens of thousands of years. Recent discoveries in ancient DNA research have provided scientists with new avenues to explore archaeological sites and with the means to identify genetic diseases in ancient individuals, allowing them not only to gain insight into how prehistoric humans lived but also into how they cared for one another.