A rare inherited growth disorder in two prehistoric individuals who lived more than 12,000 years ago

 Researchers led by the University of Vienna and Liège University Hospital Centre 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.

The discovery builds on a reanalysis of a well-known Upper Paleolithic burial discovered in 1963 at Grotta del Romito in southern Italy, which has long puzzled researchers. Unusual skeletal features and the circumstances of the burial raised longstanding questions about the relationship between the individuals and the medical reasons for their short stature.

A remarkable double burial raises questions

The two were interred together in an embrace. "Romito 2", an adolescent with pronounced limb shortening, previously assumed to be male, lay in the arms of "Romito 1", thought to be an adult female. No signs of trauma were observed. Romito 2 had an estimated height of about 110 cm, consistent with a rare skeletal growth disorder known as acromesomelic dysplasia, though this could not be confirmed solely from bones. Romito 1 was also shorter – about 145 cm –than average for the period. For decades, researchers debated their gender, relationship, and the possibility of a common cause of their short stature.

About the study

The team analysed ancient DNA extracted from the petrous part of the temporal bone of both individuals, a region known for preserving genetic material well. Genetic analysis established a first-degree relationship. The researchers then screened genes associated with skeletal growth and compared the identified variants with modern clinical data. This interdisciplinary approach, combining paleogenomics, clinical genetics, and physical anthropology, involved an international team from the University of Vienna and collaborators in Italy, Portugal, and Belgium.

Earliest genetic diagnosis in humans

The analysis showed that both individuals were female and first-degree relatives, most likely a mother and daughter. In Romito 2, researchers identified a homozygous variant in the NPR2 gene, which is essential for bone growth. This confirmed a diagnosis of acromesomelic dysplasia, Maroteaux type — a very rare inherited disorder characterized by severe short stature and marked shortening of the limbs. Genetic data from Romito 1 indicate that she carried one altered copy of the same gene, a condition associated with milder short stature.

Rare diseases in human history

Ron Pinhasi, University of Vienna, who co-led the study says: "By applying ancient DNA analysis, we can now identify specific mutations in prehistoric individuals. This helps establish how far back rare genetic conditions existed and may also uncover previously unknown variants." Daniel Fernandes of the University of Coimbra, first author of the study, adds: "Identifying both individuals as female and closely related turns this burial into a familial genetic case. The older woman's milder short stature likely reflects a heterozygous mutation, showing how the same gene affected members of a prehistoric family differently." Clinically, the results highlight the deep history of rare diseases. Adrian Daly of Liège University Hospital Centre, a co-leader of the study, notes: "Rare genetic diseases are not a modern phenomenon but have been present throughout human history. Understanding their history may help recognising such conditions today."

Evidence of social care

Despite severe physical limitations, Romito 2 survived into adolescence or adulthood, suggesting sustained care within her community. Alfredo Coppa of Sapienza University of Rome, who also co-led the study, says: "We believe her survival would have required sustained support from her group, including help with food and mobility in a challenging environment."

Summary

• Ancient DNA analysis revealed that two individuals buried together in southern Italy were closely related — most likely mother and daughter.
• In the younger individual, two altered copies of the NPR2 gene confirmed acromesomelic dysplasia (Maroteaux type), a condition marked by severe short stature and pronounced limb shortening; the older individual carried one altered copy linked to milder short stature.
• The findings show that rare genetic diseases were already present in prehistoric populations and can now be studied using paleogenomics.
• The younger individual's survival despite severe physical limitations suggests sustained care and social support within her community.

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Journal

New England Journal of Medicine

DOI

10.1056/NEJMc2513616 

Xigou site discovery challenges long-held views on early human technology in East Asia

 

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Location of the Xigou site.

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Credit: Image by the Institute of Vertebrate Paleontology and Paleoanthropology, CAS.

An international research team has uncovered evidence of advanced stone tool technologies in East Asia dating back 160,000 to 72,000 years, with the findings recently published in Nature Communications.

Led by the Institute of Vertebrate Paleontology and Paleoanthropology (IVPP) of the Chinese Academy of Sciences, the team—which included researchers from China, Australia, Spain, and the United States—conducted multidisciplinary archaeological investigations at the Xigou site in the Danjiangkou Reservoir region of central China. Their work yielded evidence of sophisticated stone tool technologies dating from 160,000 to 72,000 years ago, revealing that hominins in the region were far more innovative and adaptable than previously thought. This period coincided with the coexistence of multiple large-brained hominin species in China, including Homo longi, Homo juluensis, and potentially Homo sapiens.

To establish the site's age, the researchers applied multiple luminescence dating methods to six samples for cross-validation. Results indicated that quartz recuperated optically stimulated luminescence (ReOSL) ages provide a reliable benchmark for the depositional age of the site's stratigraphic profile. Consequently, the cultural layer at Xigou has been dated to roughly 160,000–72,000 years ago, creating a well-defined chronological framework for studying hominin activity during this interval.

Detailed analysis of 2,601 lithic artifacts recovered from the site shows that ancient inhabitants employed refined stone tool-making techniques to produce small flakes and formal tools. Small-sized flakes were generated using core reduction strategies ranging from expedient to highly systematic—including core-on-flake and discoid technologies. The standardized retouching patterns of the dominant small tools are indicative of a high degree of technological complexity and uniformity.

Among the most notable discoveries is the earliest known evidence of hafted stone tools in East Asia—representing the region's earliest confirmed composite tools. Traceological analysis identified two distinct handle types: juxtaposed and male. These composite tools, which integrated stone components with handles or shafts, reflect advanced planning, skilled craftsmanship, and a sophisticated understanding of how to optimize tool performance.

The archaeological discoveries at Xigou challenge the long-held narrative that early hominins in China exhibited technological conservatism over time. The site's robust stratigraphic sequence, spanning nearly 90,000 years, aligns with mounting evidence of increasing hominin diversity across China during this period. The presence of large-brained hominins at sites such as Xujiayao and Lingjing—some classified as Homo juluensis—provides a plausible biological basis for the behavioral complexity evident in Xigou's stone tool assemblages.

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Journal

Nature Communications

DOI

10.1038/s41467-025-67601-y 

Unlocking the sacred landscape of Roman Nida

 

International research team secures over €1 million to study newly uncovered Roman cult district

Grant and Award Announcement

Goethe University Frankfurt

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Excavated remains of a stone building with an apse – possibly a chapel. In the modern period, the walls were dismantled down to their foundations; only the extraction trenches remain visible. This pattern is characteristic of archaeological finds in Nida.

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Credit: Photo: Frankfurt City Monument Office

FRANKFURT. This marks another milestone for Roman-period archaeology in Hesse: The German Research Foundation (DFG) and the Swiss National Science Foundation (SNF) have jointly approved more than €1 million to support the analysis of excavations at the large Roman sanctuary in the ancient city of Nida (Frankfurt-Heddernheim). Over the next three years, the funding will enable researchers to conduct a comprehensive investigation of one of the most significant recent archaeological discoveries in Roman Germania.

Grant application spanning Frankfurt and Basel
Applicants for the project “Exploring the dynamics of a Roman sanctuary – Interdisciplinary studies on spatial organisation and depositions at the central sanctuary in Nida-Heddernheim”  include the Archaeological Museum Frankfurt (Dr. Carsten Wenzel); the Institute for Archaeological Sciences at Goethe University Frankfurt (Prof. Anja Klöckner, Classical Archaeology; Prof. Markus Scholz, Archaeology and History of the Roman Provinces; Prof. Astrid Stobbe, Archaeobotany); and the Institute for Integrative Prehistoric and Scientific Archaeology (IPNA) at the University of Basel (Prof. Sabine Deschler-Erb (ⴕ), Dr. Barbara Stopp). Additional cooperation partners include Frankfurt’s City Monument Office [Denkmalamt] and the Roman-Germanic Commission (RGK) of the German Archaeological Institute, also based in Frankfurt. The approved research project was officially presented today at a press conference held at the Archaeological Museum of the City of Frankfurt.

Dr. Ina Hartwig, Frankfurt’s City Commissioner for Culture and Science, commented on the project: “The central cult district of Nida represents an archaeological discovery of almost unparalleled significance in Europe. Its comprehensive scholarly investigation will further establish Frankfurt as a hub of international cutting-edge research. The project demonstrates the strength of our research landscape when museums, universities, non-university research institutions, and heritage conservation work hand in hand to make research visible within the city.”

School construction uncovers Roman cult complex
The cult district of Nida was uncovered during excavations conducted by the Monument Office between 2016 and 2018, and again in 2022, in Frankfurt’s Nordweststadt district. In the course of constructing the new “Römerstadtschule,” an area of more than 4,500 square meters in the center of the Roman city was excavated, revealing a walled complex. The site was almost completely excavated and documented using modern archaeological methods. The findings have been preserved in a coherent state, with only minimal post-Roman disturbance.

Marcus Gwechenberger, Frankfurt’s City Councilor for Planning and Housing, emphasized the discovery’s broader significance: “The newly uncovered cult district of the Roman city of Nida is among the most important archaeological finds in Frankfurt in recent years. The funding now makes it possible to scientifically analyze this exceptional discovery in depth. At the same time, it recognizes the continuous and highly professional work of our municipal heritage office. This project also illustrates how urban development and research go hand in hand in Frankfurt. The fact that the discovery was made during construction of the new Römerstadtschule vividly demonstrates how past and future intersect in our city.”

Archaeological Evidence of Roman Cult Practices
The cult site comprises eleven stone buildings constructed in several phases, as well as around 70 shafts and ten pits used for (ritual) depositions. The building layouts are highly unusual and have no known parallels in the Germanic or Gallic provinces of the Roman Empire. More than 5,000 fragments of painted wall plaster, together with bronze fittings from doors and windows, attest to the elaborate architectural design of the structures.

The shafts and pits yielded numerous ceramic vessels and large quantities of plant and animal remains, including fish and birds. These finds are interpreted as remains of ritual meals and offerings made to the gods. To facilitate detailed analysis, 150 samples were collected for archaeozoological and archaeobotanical study.

The analysis of 254 Roman coins and more than 70 silver and bronze garment clasps (fibulae), some of them fully preserved, is central to reconstructing the ritual and sacrificial practices carried out at the site. Such objects are widely attested as offerings and votive gifts in Roman sanctuaries throughout the empire. By contrast, the evidence pointing to possible human sacrifice at the cult district of Nida is entirely exceptional. Despite the excellent state of preservation and the richness of the material record, conclusions regarding the specific deities worshipped at the site remain limited. Inscriptions and iconographic evidence attest to the veneration of several gods, including Jupiter, the chief Roman deity; Jupiter Dolichenus, particularly revered by soldiers; Mercurius Alatheus, god of trade and commerce; Diana, goddess of nature; Apollo, god of healing; and Epona, the Celtic-Roman goddess of fertility. This constellation suggests that the site functioned as a sanctuary of regional importance in which multiple deities were worshipped side by side.
Based on current evidence, the cult district was established at the beginning of the 2nd century CE. A dedicatory inscription from a soldier to Mercurius Alatheus, dated 9 September 246 CE, confirms that the sanctuary remained in use at least until the mid-3rd century CE.

Interdisciplinary Research Team Enables Comprehensive Study
The approval of this large-scale research project underscores the importance of archaeological research in the Frankfurt region. It also serves as a strong example of the close networking of academic institutions within the Rhine-Main area, both among themselves and in collaboration with international partner institutions.

The funding provides a unique opportunity to investigate this regionally significant complex through an interdisciplinary approach. Focusing on the analysis of interior design and depositional practices, the project aims to reconstruct the ritual activities carried out at the site. In doing so, the cult district of Nida will be embedded within the broader cultural and historical context of the sacred landscapes of the Roman north-western provinces. The project will involve five early-career researchers in doctoral and postdoctoral positions across the participating institutions.

One year after the presentation of the “Frankfurt Silver Inscription”: Research on Nida enters the next phase 
In addition to the cult district, other excavations conducted by the Monument Office over the past decades have yielded important insights into the settlement history and topography of Nida. Just over a year after the presentation of the “Frankfurt Silver Inscription” – the oldest known Christian written testimony north of the Alps – the Roman city on Frankfurt soil is once again the focus of public attention. The research team now has the unique opportunity to collaboratively explore Roman religions in Frankfurt and investigate temples, sacrifices, and rituals. The high-quality, exceptionally well-preserved findings underscore the exceptional importance of Nida for Roman-period archaeology in Germany. Founded as a military base in the 70s of the 1st century CE, the settlement developed into the economic and cultural center of the Limes region by the early 2nd century. Characterized by remarkable cultural diversity, Nida remained one of the most important urban centers in Roman Germania until its abandonment around 275/280 CE.

The earliest Indo-European speakers

For centuries, linguists noticed something strange. Words for family, numbers, tools, and the sky echoed across languages spoken thousands of miles apart. English, Spanish, Greek, Hindi, Farsi, and hundreds more all seemed to point back to a single vanished tongue. But who spoke it, and where, remained one of history’s most heated debates.

In the early 2020s, large-scale DNA studies finally added flesh to the linguistic skeleton. By analyzing ancient genomes from across Eurasia, researchers traced the earliest Indo-European speakers to a small population living about 6,400 years ago on the Pontic-Caspian Steppe, between the Black Sea and the Caspian Sea.

These people were not city builders. They were mobile pastoralists and farmers, moving with herds across open grasslands. Archaeology links them to early steppe cultures that used wagons, practiced animal husbandry, and buried their dead beneath earthen mounds. Their mobility mattered. As their descendants migrated west into Europe and east into Central and South Asia, their language traveled with them, adapting, splitting, and evolving.

DNA shows these migrations were not just cultural. Steppe ancestry appears suddenly in ancient skeletons from regions thousands of kilometers apart, matching the timing when Indo-European languages begin to diverge. Linguistic clues align with the genetics, shared words for wheels, horses, and livestock reflect a world already shaped by pastoral life and early transport.

What makes this story remarkable is scale. A few thousand people, speaking a language never written down, ended up shaping how nearly half of humanity speaks today. Their words survived where their names did not.

Language, it turns out, can outlive nations, empires, and even memory.

Soorce: Facebook Know Your Planet ·

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A 5,500-year-old genome rewrites the origins of syphilis

 

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A newly sequenced genome of the bacterium that causes syphilis, Treponema pallidum, highlights the deep antiquity of treponemal diseases in the Americas. The findings, based on a 5,500-year-old specimen from Colombia, suggest syphilis’s emergence was not dependent on the agricultural intensification and population crowding often linked to the spread of infectious disease. Instead, it was dependent on social and ecological conditions of hunter-gatherer societies. “Reframing syphilis, alongside other infectious diseases, as products of both localized and highly specific evolutionary, ecological, and biosocial conditions and globalization may represent critical steps toward reducing stigma and improving public health,” write Molly Zuckerman and Lydia Ball in a related perspective. Treponemal diseases, such as syphilis, yaws, bejel, and pinta, have afflicted human populations across much of the world for thousands of years. However, much about the global antiquity and distribution of these diseases, as well as the evolutionary history of the bacteria that cause them, remains unknown. Among the most debated questions is the geographic origin and global spread of syphilis, which is caused by the bacterium T. pallidum. Some argue that the disease originated in the Americas and was brought to the Eastern Hemisphere following European contact in the late 15th century. Others maintain that Treponema was already present in Europe before contact. Yet the rarity and ambiguity of skeletal evidence of these diseases and the technical difficulty of recovering ancient bacterial DNA from affected remains has made addressing these questions difficult.

 

David Bozzi and colleagues present a 5,500-year-old Treponema genome recovered from Middle Holocene-age human hunter-gatherer remains from Colombia. The new evidence extends the known genetic record of this pathogen by roughly 3,000 years. According to Bozzi et al., phylogenetic analysis shows that this genome (TE1-3) represents a previously unknown branch of T. pallidum that split off before all other known subspecies emerged. Although it falls clearly within the T. pallidum species, TE1-3 is genetically diverse and distinct from modern strains. Notably, the authors found that TE1-3 also carries the full suite of genetic features associated with virulence in modern T. pallidum. Moreover, the findings suggest that T. pallidum predates the rise of agriculture in the Americas, indicating that the pathogen’s emergence was not dependent on the agricultural intensification and population crowding often linked to the spread of infectious disease. Instead, the TE1-3 lineage is associated with the social and ecological conditions of hunter-gatherer societies, including high mobility, small community interactions, and close contact with wild animals. According to Bozzi et al., the study’s findings expand the temporal, ecological, and social framework for understanding treponemal disease worldwide.

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Journal

Science

DOI

10.1126/science.adw3020 

A new study refines the dating of human past on the Cantabrian coast 18,000 years ago

 A new study refines radiocarbon dating of marine remains and significantly improves the precision with which the human past of the Magdalenian period in the Cantabrian region of Spain can be reconstructed, a key phase of European prehistory dating to around 18,000 years ago.

An international study led by the Institute of Environmental Science and Technology of the Universitat Autònoma de Barcelona (ICTA-UAB) provides new correction values for the radiocarbon dating of marine remains—such as shells—recovered from archaeological sites in the northern Iberian Peninsula. This represents a major advance for more accurately interpreting the chronology of prehistoric human occupations in coastal areas. The study also involved researchers from the universities of Salamanca and Cantabria, the Aranzadi Society of Sciences, and the Max Planck Institute in Germany.

Radiocarbon dating, or carbon-14 dating, is one of the most widely used tools in archaeology for determining the age of archaeological sites. All living organisms incorporate carbon-14 while they are alive, but once they die, this isotope begins to decay progressively. Because its amount is reduced by half every 5,730 years, it is possible to calculate the time elapsed since the death of the organism and place it within a chronological framework.

Radiocarbon dating is most commonly applied to charcoal, human bones, and terrestrial animal remains. However, in many coastal archaeological sites the only available materials are of marine origin—shells, fish, or marine mammals—making it necessary to rely on these remains to establish site chronologies.

This introduces a key challenge: dates obtained from marine organisms may appear older than they actually are when dated using radiocarbon methods. This occurs because marine organisms contain less carbon-14 than their contemporary terrestrial counterparts, as oceanic carbon includes a component of carbon-14 that is already partially depleted. This offset, known as the marine reservoir effect, means that when a marine organism dies, it starts with a lower carbon-14 concentration than a terrestrial organism. If not properly corrected, this effect can make radiocarbon ages appear several hundred years too old.

To correct this offset, a global marine calibration curve is used, to which a local correction factor known as ΔR is added. ΔR varies depending on the region and the time period. “Accurately determining these values is essential for obtaining reliable radiocarbon dates, especially at archaeological and palaeontological sites that contain marine remains, or when dating human remains from populations whose diet included large amounts of marine resources”, explains Asier García-Escárzaga, who conducted this research at ICTA-UAB and the Department of Prehistory of the UAB.

The study, recently published in the journal Radiocarbon, presents new ΔR values that allow radiocarbon dates obtained from marine remains from Magdalenian sites dating to around 18,000 years ago in the northern Iberian Peninsula to be corrected more accurately. To calculate these values, the research team compared radiocarbon dates from marine and terrestrial remains recovered from the Tito Bustillo cave site (Ribadesella), renowned for its rock art and Palaeolithic engravings. “This advance does not mean that archaeological sites are older or younger than previously thought, but rather that we can date them more precisely, fine-tuning the ‘clock’ archaeologists use to reconstruct the history of Palaeolithic human populations”, García-Escárzaga concludes.

 

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Journal

Radiocarbon

DOI

10.1017/RDC.2025.10175 

Human impact of first known ancient pandemic

Findings add to the historical record on the causes of the Plague of Justinian, which killed millions within the Byzantine Empire

“A plague is upon us’’ must have been a common phrase in ancient Jordan, where countless people perished from a mysterious malady that would shape both a society and an era of civilization.

Now, an interdisciplinary team of University of South Florida experts is learning more about the Plague of Justinian and its consequences during that early time. Led by Rays H. Y. Jiang, an associate professor in the College of Public Health, the team recently completed a third in a series of scholarly papers focusing on the first-known outbreak of bubonic plague in the Mediterranean world.

The paper “Bioarchaeological signatures during the Plague of Justinian (541–750 CE) in Jerash, Jordan” is in print at the Journal of Archaeological Science. It adds to the historical record on what caused the devastating outbreak that killed millions within the Byzantine Empire.

“We wanted to move beyond identifying the pathogen and focus on the people it affected, who they were, how they lived and what pandemic death looked like inside a real city,’’ Jiang said.

During the Plague of Justinian, the people affected lived in diverse and often unconnected communities. But the plague brought them together in death, with countless bodies deposited rapidly atop layers of pottery debris in an abandoned civic space − the focal point of this recent research.

Jiang was principal investigator for the study, with colleagues from USF’s Genomics, Global Health Infectious Disease Research Center and the departments of anthropology, molecular medicine and history. Additional insights came from archaeologist Karen Hendrix at Sydney University Australia and a DNA lab at Florida Atlantic University. While their first two papers focused primarily on Yersinia pestis, a pathogen that causes deadly forms of plague, the new research examined its short and long-term impact on an ancient society – and even what it might mean today.

“The earlier stories identified the plague organism,’’ Jiang said. “The Jerash site turns that genetic signal into a human story about who died and how a city experienced crisis.’’

While historical sources describe widespread plague in the Byzantine world, many proposed mass burials have remained speculative. Jerash is the first site where a plague mass grave has been confirmed both archaeologically and genetically.

The authors describe it as a single mortuary event, fundamentally different from normal civic cemeteries that grow in size over time. At Jerash, hundreds of bodies were deposited within days. This finding changes perceptions about the First Pandemic in two important ways: It provides direct evidence of large-scale human mortality and offers insight into how people moved, lived and became vulnerable within ancient cities.

The mass grave also helps resolve a long-standing puzzle: Why history and genetics show that people moved and mixed over time, while other evidence makes ancient communities appear mostly local. Trade, migration and empires brought people together across the Middle East, yet most burials suggest people grew up where they were buried.

Jerash shows both can be true. Migration often happened gradually over generations and was usually diluted within everyday communities, making it hard to detect in normal cemeteries. During a crisis, however, mobile populations were suddenly concentrated together, allowing long-term patterns of movement to become visible in a single moment.

The evidence suggests that the individuals buried at Jerash were part of a mobile population embedded within the broader urban community of ancient Jordan, normally dispersed across the landscape but brought together in a single mass grave by crisis.

“By linking biological evidence from the bodies to the archaeological setting, we can see how disease affected real people within their social and environmental context,’’ Jiang said. “This helps us understand pandemics in history as lived human health events, not just outbreaks recorded in text.’’

The research team is helping reshape the understanding not only of how pandemics are born and spread, but their impact on human life and civic responses. They thrive through densely populated cities, travel and environmental change, just as pathogens of today.

“Pandemics aren’t just biological events, they’re social events, and this study shows how disease intersects with daily life, movement and vulnerability,’’ Jiang said. “Because pandemics reveal who is vulnerable and why, those patterns still shape how disease affects societies today.’’