Scientists have uncovered the oldest known genetic diagnosis of a rare inherited disease, thanks to advances in ancient DNA research.
By analyzing the DNA of two prehistoric individuals buried together in southern Italy, researchers have identified a rare growth disorder in a mother and her daughter who lived more than 12,000 years ago.
The study, led by scientists from the University of Vienna and the Liège University Hospital Center, was published in the New England Journal of Medicine.
The discovery comes from a fresh look at a famous Upper Paleolithic burial found in 1963 at Grotta del Romito.
The burial has intrigued scientists for decades because of the unusual way the two individuals were laid to rest.
The younger individual, known as Romito 2, was buried in the arms of Romito 1, an older adult. Both had unusually short stature, and Romito 2 showed clear signs of abnormal limb shortening. Until now, researchers could only guess at the cause.
Based on the skeleton alone, scientists suspected a rare condition called acromesomelic dysplasia, a genetic disorder that severely affects bone growth. However, without genetic evidence, this diagnosis could not be confirmed. There were also long-standing debates about whether the two individuals were male or female, and whether they were related.
Using cutting-edge techniques, the research team extracted ancient DNA from the dense inner ear bone of both individuals, which is known to preserve genetic material particularly well. The results provided clear answers. Both individuals were female and closely related, most likely a mother and daughter.
More importantly, the DNA revealed the genetic cause behind their short stature. Romito 2 carried two altered copies of a gene called NPR2, which plays a key role in bone development. This confirmed a diagnosis of acromesomelic dysplasia, Maroteaux type, a very rare inherited condition that leads to severe short stature and shortened limbs. Romito 1 carried only one altered copy of the same gene, explaining why she was shorter than average but much less affected than her daughter.
This makes the Romito burial the earliest known case in which a rare genetic disease has been diagnosed at the molecular level in humans. Researchers say the finding shows that such conditions are not modern but have existed throughout human history.
Beyond the medical breakthrough, the study also hints at the social lives of prehistoric people. Despite her severe physical limitations, Romito 2 lived into adolescence or early adulthood. This suggests she received long-term care from her community, including help with food and movement in a demanding Ice Age environment.
The research involved an international team of geneticists, archaeologists, and clinicians, including scientists from the Sapienza University of Rome. Together, they show how combining ancient DNA with modern medical knowledge can not only reveal family relationships from deep time, but also bring us closer to the lived experiences of people who walked the Earth thousands of years ago.
Source: KSR.
