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

Daniel Fernandes preparing to take a sample
Photo Credit: ©Adrian Daly

Scientific Frontline: Extended "At a Glance" Summary

The Core Concept: Researchers have successfully performed the earliest known genetic diagnosis in humans, identifying a rare inherited growth disorder called acromesomelic dysplasia in a 12,000-year-old skeleton found in Italy.

Key Distinction/Mechanism: While traditional archaeology often relies on skeletal measurements to infer health conditions, this study utilized ancient DNA (aDNA) sequencing to pinpoint specific mutations. By extracting DNA from the petrous part of the temporal bone, scientists identified a homozygous mutation in the NPR2 gene responsible for the severe short stature in the daughter, and a heterozygous mutation in the mother, which caused a milder form of the condition.

Origin/History: The skeletal remains were originally excavated in 1963 at the Grotta del Romito in southern Italy and date back to the Upper Paleolithic period (over 12,000 years ago).

Major Frameworks/Components:

• Ancient DNA (aDNA) Analysis: Extraction and sequencing of genetic material from prehistoric bone samples.
• Targeted Gene Screening: Focusing specifically on genes known to influence skeletal growth, such as NPR2.
• Comparative Clinical Genetics: Cross-referencing ancient genetic variants with modern medical databases to confirm diagnoses.

Branch of Science: Paleogenomics, Clinical Genetics, Evolutionary Anthropology, and Physical Anthropology.

Future Application: This methodology paves the way for reconstructing the medical history of ancient populations, diagnosing other rare diseases in the archaeological record, and understanding the evolutionary timeline of specific genetic mutations.

Why It Matters: This discovery proves that rare genetic diseases are not exclusively modern phenomena but have persisted throughout human history. Furthermore, the survival of the severely disabled individual into adulthood provides profound evidence of social care and community support in prehistoric hunter-gatherer societies.

Mineralized dental plaque from the Iron Age provides insight into the diet of the Scythians

A Scythian. Found in the kurgan Olon-Kurin-Gol 10, Altai Mountains, Mongolia.
Image Credit: reconstruction by Dimitri Pozdniako
(Wikimedia CC 4.0)

Scientific Frontline: "At a Glance" Summary

• Main Discovery: Analysis of mineralized dental plaque from the Iron Age provides the first direct biomolecular evidence that Scythian populations consumed milk from various ruminants and horses.
• Methodology: Researchers performed paleoproteomic analysis on dental calculus samples collected from 28 individuals excavated at the Bilsk and Mamai-Gora archaeological sites in modern-day Ukraine to identify preserved dietary proteins.
• Key Data: Specific milk proteins from cattle, sheep, or goats were identified in six individuals, while horse milk proteins were detected in a single sample, physically validating ancient textual references to mare's milk consumption.
• Significance: The findings challenge the traditional simplified narrative of Scythians as uniform nomadic warriors, supporting a more nuanced model of a multi-ethnic society with diverse subsistence strategies including pastoralism and local sedentarism.
• Future Application: This proteomic methodology will be scaled to analyze larger cohorts across the Eurasian steppe to map regional dietary variations, social stratifications, and temporal changes in Iron Age food systems.
• Branch of Science: Bioarchaeology and Paleoproteomics
• Additional Detail: The isolation of horse milk proteins in only one individual raises questions about potential social hierarchies, suggesting that consumption of specific dairy products may have been restricted or culturally significant.

Hygienic conditions in Pompeii’s early baths were poor

Pools of the oldest public bathing facilities in Pompeii, dating back to 130 BC
Photo Credit:© Cees Passchier

Scientific Frontline: "At a Glance" Summary

• Main Discovery: Isotope analysis of carbonate deposits reveals that Pompeii’s early "Republican Baths" (c. 130 BC) maintained poor hygienic conditions, relying on stagnant, highly mineralized well water rather than fresh aqueduct supplies.
• Methodology: Researchers reconstructed the ancient water supply by analyzing stable isotopes and trace elements in limescale (calcium carbonate) samples collected from the city’s wells, water towers, and bath pools.
• Key Data: Anthropogenic deposits contained distinct peaks of lead, zinc, and copper, indicating significant heavy metal contamination caused by the corrosion of the facility's boilers and pipes.
• Mechanism: Prior to the Augustan aqueduct, water was extracted via slave-powered treadwheels; this labor-intensive process limited water renewal to roughly once per day, failing to flush contaminants effectively.
• Significance: The findings challenge the historical assumption of uniformly high Roman hygiene, demonstrating that superior sanitation standards were only achievable after the introduction of high-volume aqueduct infrastructure.
• Volcanic Insight: Cyclic patterns observed in the carbon isotopes of well deposits suggest fluctuating volcanic CO₂ levels, potentially serving as a paleo-record of Mount Vesuvius's activity prior to the AD 79 eruption.

First ancient human herpesvirus genomes document their deep history with humans

Laboratory technician and one of the authors in the contamination-controlled ancient DNA laboratory at the University of Tartu extracting tiny amounts of DNA from centuries-old skeletons.
Photo Credit: Courtesy of University of Tartu

For the first time, scientists have reconstructed ancient genomes of Human betaherpesvirus 6A and 6B (HHV-6A/B) from archaeological human remains more than two millennia old. The study, led by the University of Vienna and University of Tartu (Estonia) and published in Science Advances, confirms that these viruses have been evolving with and within humans since at least the Iron Age. The findings trace the long history of HHV-6 integration into human chromosomes and suggest that HHV-6A lost this ability early on. 

HHV-6B infects about 90 percent of children by the age of two and is best known as the cause of roseola infantum – or "sixth disease" – the leading cause of febrile seizures in young children. Together with its close relative HHV-6A, it belongs to a group of widespread human herpesviruses that typically establish lifelong, latent infections after an initial mild illness in early childhood. What makes them exceptional is their ability to integrate into human chromosomes – a feature that allows the virus to remain dormant and, in rare cases, to be inherited as part of the host's own genome. Such inherited viral copies occur in roughly one percent of people today. While earlier studies had hypothesized that these integrations were ancient, the new data from this study provide the first direct genomic proof. 

Farmers boosted Europe's biodiversity over the last 12,000 years

Standing stones in Carnac, France. Built between 6,500 - 5,300 years ago by Europe's first farmers.
 Photo Credit: Jonny Gordon.

Although humans are to blame for nature’s recent decline, a new study shows that for millennia, European farming practices drove biodiversity gains, not losses. 

Standing stones in Carnac, France. Built between 6,500 - 5,300 years ago by Europe's first farmers. Picture by Jonny Gordon. 

A team of researchers at the University of York analyzed fossil pollen records from Europe to track vegetation changes stretching back 12,000 years. They discovered that as new populations of farmers from Turkey moved into Europe 9,000 years ago, far from destroying plant diversity, they enriched it. 

Dr Jonny Gordon is a Postdoctoral Research Associate in the Leverhulme Centre for Anthropocene Biodiversity and lead author of the new paper, Increased Holocene diversity in Europe linked to human-associated vegetation change, which has been published in Global Ecology and Biogeography. 

Australopithecus deyiremeda, an ancestor of the human species discovered in Ethiopia, was bipedal and climbed trees

Professor Lluís Gibert, from the University of Barcelona, is the only expert from a European institution participating in an international study based on the analysis of the bones of a fossilized foot and teeth that has revealed how Australopithecus deyiremeda, a human ancestor that coexisted more than three million years ago with Australopithecus afarensis — the famous Lucy — on the plains of East Africa, moved and fed.
Photo Credit: Courtesy of University of Barcelona

In 2009, scientists found eight bones from the foot of a human ancestor in layers of ancient sediment at the Woranso-Mille site in the central Afar region of Ethiopia. The fossil remains, known as the Burtele Foot, were discovered by a team led by paleoanthropologist Yohannes Haile-Selassie, from Arizona State University (United States), but were not assigned to any fossil species of a human ancestor from the African continent.

A study now published in the journal Nature and led by Haile-Selassie solves the mystery and reveals that Burtele Foot belongs to the species Australopithecus deyiremeda, a new hominid fossil discovered years ago by the researcher’s team at the Woranso-Mille site (Nature, 2015). Thus, the study of this fossil foot — dated to about 3.4 million years ago — reveals that A. deyiremeda was an Australopithecus that walked on two limbs (bipedalism) and also lived in trees, as indicated by the presence of a prehensile big toe like that of chimpanzees. 

The international team of experts includes Professor Lluís Gibert, from the Faculty of Earth Sciences of the University of Barcelona, who is the only researcher from a European institution to sign the study. Geological analyses were decisive for dating and linking this foot to the remains of A. deyiremeda. 

Anthropology: In-Depth Description

Easter Island, a Chilean territory, is a remote volcanic island in Polynesia. Its native name is Rapa Nui. It’s famed for archaeological sites, including nearly 900 monumental statues called moai, created by inhabitants during the 13th–16th centuries. The moai are carved human figures with oversize heads, often resting on massive stone pedestals called ahus. Ahu Tongariki has the largest group of upright moai.
Photo Credit: Sofia Cristina Córdova Valladares

Anthropology (Social Science) is the holistic and comparative study of humanity. It seeks to understand every aspect of the human condition—our origins, development, and diversity—across all of in time and space.

The discipline's primary goal is to answer the question: "What does it mean to be human?" To do this, it synthesizes knowledge from social sciences, natural sciences, and the humanities, examining our biology, culture, language, and history collectively.

What Is: Extinction Level Events

A Chronicle of Earth's Biotic Crises and an Assessment of Future Threats
Image Credit: Scientific Frontline

Defining Biotic Catastrophe

The history of life on Earth is a story of breathtaking diversification and innovation, but it is punctuated by chapters of profound crisis. These are the extinction level events—catastrophes of such magnitude that they fundamentally reset the planet's biological clock. Popular imagination often pictures a single, sudden event, like the asteroid that sealed the fate of the dinosaurs. The geological reality, however, is more complex and, in many ways, more instructive for our current era. Understanding these events requires a rigorous scientific framework that moves beyond simple notions of species loss to appreciate the systemic collapse of entire global ecosystems.

Did Lead Limit Brain and Language Development in Neanderthals and Other Extinct Hominids?

UC San Diego researchers have found high levels of lead in the teeth of both Neanderthals (left) and modern humans (right). However, a gene mutation may have protected modern human brains, allowing language to flourish.
Photo Credit: Kyle Dykes/UC San Diego Health Sciences

Ancient human relatives were exposed to lead up to two million years ago, according to a new study. However, a gene mutation may have protected modern human brains, allowing language to flourish.

What set the modern human brain apart from our now extinct relatives like Neanderthals? A new study by University of California San Diego School of Medicine and an international team of researchers reveals that ancient hominids — including early humans and great apes — were exposed to lead earlier than previously thought, up to two million years before modern humans began mining the metal. This exposure may have shaped the evolution of hominid brains, limiting language and social development in all but modern humans due to a protective genetic variant that only we carry. The study was published in Science Advances.

The researchers analyzed fossilized teeth from 51 hominids across Africa, Asia and Europe, including modern and archaic humans such as Neanderthals, ancient human ancestors like Australopithecus africanus, and extinct great apes such as Gigantopithecus blacki.

Easter Island’s statues actually “walked” – and physics backs it up

A research team including Binghamton University archaeologist Carl Lipo has confirmed via 3D modeling and field experiments that the ancient people of Rapa Nui "walked" the iconic moai statues.
 Photo Credit: Carl Lipo

For years, researchers have puzzled over how the ancient people of Rapa Nui did the seemingly impossible and moved their iconic moai statues. Using a combination of physics, 3D modeling and on-the-ground experiments, a team including faculty at Binghamton University, State University of New York, has confirmed that the statues actually walked – with a little rope and remarkably few people.

Studying nearly 1,000 moai statues, Binghamton University Professor of Anthropology Carl Lipo and the University of Arizona’s Terry Hunt found that the people of Rapa Nui likely used rope and “walked” the giant statues in a zig-zag motion along carefully designed roads.

Researchers on the verge of solving Mexican mystery

The Mesoamerican city of Teotihuacan in central Mexico.
Photo Credit: Christophe Helmke, University of Copenhagen

More than two millennia ago, Teotihuacan was a thriving metropolis in central Mexico with up to 125,000 inhabitants. The city had gigantic pyramids and was a cultural center in Mesoamerica at the time.

But the city, which today consists of ruins and is a popular destination for both archaeologists and tourists, holds a great mystery. Who were its inhabitants?

Researchers Magnus Pharao Hansen and Christopher Helmke from the University of Copenhagen have presented a possible solution to the mystery in the renowned journal Current Anthropology.

By analyzing the signs on Teotihuacan's colorful murals and many other artefacts, they have concluded that the signs constitute an actual writing system, and they believe that this writing records an early form of the Uto-Aztecan language, which a thousand years later developed into the languages Cora, Huichol, and Nahuatl, the language of the Aztecs.

The life of a Stone Age man has been mapped

Illustration Credit: Niels Bach
CC-BY 4.0

Researchers have mapped the life of a Stone Age man in detail. New scientific methods have revolutionized archaeology and the Swedish-Danish team of researchers at the University of Gothenburg are now able to state that “Vittrup Man”, a Stone Age man found in a bog in Denmark, travelled across a wide geographical area during his lifetime.

Vittrup Man was first discovered in 1915. His skull had been split by at least eight blows from a club and his body placed in a wetland in north Jutland. Until recently, this was all we knew about him. Researchers now know that he had travelled a long way before his death in about 3200 BCE. He must have led an interesting life.

“He comes from the north, from a relatively cold area, and it must have been a coastal area because the food he ate as a child came from the sea,” says archaeologist Karl-Göran Sjögren, a member of the research team.

Viking dentistry was surprisingly advanced

Teeth from individuals among the Viking Age population of Varnhem in Västergötland, Sweden, are clinically examined by Carolina Bertilsson at the Institute of Odontology.
Photo Credit: Yoichi Ishizuka

Widespread caries and toothache – but also some dental work and filing of front teeth. Viking Age teeth from Varnhem bear witness to surprisingly advanced dentistry. This has been shown in a study carried out at the University of Gothenburg.

The study examined 3,293 teeth from 171 individuals among the Viking Age population of Varnhem in Västergötland, Sweden. The site is known for extensive excavations of Viking and medieval environments, including tombs where skeletons and teeth have been preserved well in favorable soil conditions.

The research team from the University of Gothenburg’s Institute of Odontology worked with an osteologist from Västergötland’s Museum. The skulls and teeth were transported to Gothenburg, where all the examinations were carried out.

The teeth underwent clinical examinations using standard dentistry tools under bright light. A number of X-ray examinations were also performed using the same technique used in dentistry, where the patient bites down on a small square imaging plate in the mouth.

Plague from Egypt: topos or reality?

Fortress in Alexandria, Egypt
From Alexandria and Pelusium, goods and people traveled from Egypt to the entire Mediterranean region. Did epidemics also spread along this route?
Photo Credit: Juan Nino

Many reports from antiquity about outbreaks of plague mention Egypt as the source of pestilences that reached the Mediterranean. But was this really the case? Researchers from the University of Basel are conducting a critical analysis of the ancient written and documentary evidence combined with archaeogenetic findings to add some context to the traditional view.

Red and inflamed eyes, bad breath, fever, violent convulsions, boils and blisters over the entire body: these and other symptoms are mentioned by historian Thucydides in connection with the “Plague of Athens”, which lasted from 430 to 426 BCE. He suspected that the epidemic originated in Aithiopia. “This area isn’t to be confused with the country we now know as Ethiopia, but was a more general term used at the time to refer to the region south of Egypt,” explains Professor Sabine Huebner, Professor of Ancient History at the University of Basel.

Contemporary accounts suggest that later epidemics in the Mediterranean also started in Egypt and Aithiopia, such as the Antonine Plague, the Plague of Cyprian and the Justinianic Plague, which ravaged the ancient world between the second and sixth centuries.

The encounter between Neanderthals and Sapiens as told by their genomes

analysed the distribution of the portion of DNA inherited from Neanderthals in the genomes of humans (Homo sapiens) over the last 40,000 years.
Full Size Image
Image Credit: © Claudio Quilodrán

About 40,000 years ago, Neanderthals, who had lived for hundreds of thousands of years in the western part of the Eurasian continent, gave way to Homo sapiens, who had arrived from Africa. This replacement was not sudden, and the two species coexisted for a few millennia, resulting in the integration of Neanderthal DNA into the genome of Sapiens. Researchers at the University of Geneva (UNIGE) have analyzed the distribution of the portion of DNA inherited from Neanderthals in the genomes of humans (Homo sapiens) over the last 40,000 years. These statistical analyses revealed subtle variations in time and geographical space. This work, published in the journal Science Advances, helps us to understand the common history of these two species. 

Thanks to genome sequencing and comparative analysis, it is established that Neanderthals and Sapiens interbred and that these encounters were sometimes fruitful, leading to the presence of about 2% of DNA of Neanderthal origin in present-day Eurasians. However, this percentage varies slightly between regions of Eurasia, since DNA from Neanderthals is somewhat more abundant in the genomes of Asian populations than in those of European populations. 

Climate and human land use both play roles in Pacific island wildfires past and present

SMU fire scientist Christopher Roos
Photo Credit: Courtesy of  Southern Methodist University

It’s long been understood that human settlement contributes to conditions that make Pacific Islands more susceptible to wildfires, such as the devastating Aug. 8 event that destroyed the Maui community of Lahaina. But a new study from SMU fire scientist Christopher Roos published in the journal Nature Ecology & Evolution shows that climate is an undervalued part of the equation.

Roos, SMU environmental archaeologist and professor of anthropology, traveled with his team to the Sigatoka River valley in southwestern Fiji in 2013, where they collected charcoal and stable carbon isotopes from deep soil cores to understand historic patterns of fire activity in the area. Different plants have distinct carbon isotopic signatures, which can provide information about past plant communities.

The team found fires and fire-created grassy areas that predate human settlement by millennia and actively corresponded to droughts likely driven by a regularly occurring weather pattern known as El Niño. El Niño events can alter precipitation patterns worldwide, making environmental conditions more favorable for wildfires. The National Oceanic and Atmospheric Administration issued an El Niño advisory in June, announcing the latest arrival of the climate event that continues to influence weather worldwide.

New study shows signs of early creation of modern human identities

SapienCE researchers have publiched a new study which provides vital information about how and when we may have started developing modern human identities. Image showing excavation at Blombos Cave, South Africa.
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Resized Image using AI by SFLORG
Photo Credit: UiB, SapienCE

The study, which is newly published in the Journal of Human Evolution, confirms previous scant evidence, and supports a multistep evolutionary scenario for the culturalization of the human body.

Eye-catching shells made into ornaments

The new study is conducted by Francesco d'Errico, Karen Loise van Niekerk, Lila Geis and Christopher Stuart Henshilwood. The significant findings provide vital information about how and when we may have started developing modern human identities.

“The discovery of eye-catching unmodified shells with natural holes from 100 to 73 ka confirms previous scant evidence that marine shells were collected, taken to the site and, in some cases, perhaps worn as personal ornaments before a stage in which shells belonging to selected species were systematically, and intentionally perforated with suitable techniques to create composite beadworks”, van Niekerk says.

Similar shells have been found in North Africa, other sites in South Africa and the Mediterranean Levant, which means that the argument is supported by evidence from other sites, not just Blombos Cave.

Hunting anything that flies

Pillar from Göbekli Tepe depicting a vulture with its wings spread. 
Photo Credit: © Nadja Pöllath / SNSB-SPM

Birds were an important source of food for hunter-gatherer communities in Upper Mesopotamia at the beginning of the Neolithic period. Besides mammals, ranging from aurochs to hares, or fish, foragers also pursued an impressively large spectrum of bird species in Southeast Anatolia 11,000 years ago. They were hunted mainly, but not exclusively, in autumn and winter – at the time of year, when many bird species form larger flocks and migratory birds cross the area. The species lists are therefore very extensive: At the famous Early Neolithic settlement and the world's oldest temple complex of Göbekli Tepe, for example, c. 18 km northeast of present-day Şanlıurfa (SE Anatolia, Turkey), the researchers identified the remains of at least 84 bird species. Dr. Nadja Pöllath, curator at the Bavarian State Collection for Palaeoanatomy (Staatssammlung für Paläoanatomie München SNSB-SPM) and Prof. Joris Peters, chair of the Institute for Palaeoanatomy, Domestication Research and History of Veterinary Medicine at LMU München and director of the state collection, identified the Neolithic bird bones with the aid of the reference skeletons of the state collection.

The researchers were surprised by the large number of small passerine birds identified at Göbekli Tepe, comprising mainly starlings and buntings. In principle, the Early Neolithic inhabitants of Göbekli Tepe hunted birds in all habitats – mainly in the open grassland and wooded steppe in their direct surroundings, but also in the wetlands and gallery forest somewhat further away.

New insights into the origin of food sharing among humans

Chimpanzees Gremlin and son Grendel, begging for food, at Gombe National Park, Tanzania.
Photo Credit: Courtesy of University of Minnesota

As humans evolved to hunt, gather and share food, cooperation provided a key to our success as a species. While chimpanzees and other primates sometimes share food, humans stand out. As hunter-gatherers — the subsistence strategy that all humans followed until the invention of agriculture — our survival depended on daily sharing of food between unrelated adult males and females. 

While hunter-gatherers today depend heavily on hunting and cooking, long before these activities became important for our ancestors, species such as Australopithecus extracted foods such as roots, tubers and nuts. Since hunter-gatherers and nonhuman primates tend to share foods that are large, valuable and divisible, these nutrient-dense foods are likely candidates for sharing, and may have been susceptible to theft by hungry group members. 

In new research published in the Proceedings of the National Academy of Sciences (PNAS), a team led by College of Biological Sciences Professor Michael Wilson developed a conceptual and mathematical model of the evolution of food production and sharing in early human ancestors. The interdisciplinary team included an economist, a theoretical biologist, an anthropologist and a primatologist. 

Romantic Love in Humans May Have Evolved From Same-Sex Friendship

Two adolescent male chimpanzees, Barron, 15, and PeeWee, 9, grooming.
Photo Credit: Aaron Sandel.

Romantic heterosexual relationships in humans may have evolved from same-sex pairings in a common ancestor of humans and chimpanzees, according to a novel hypothesis by a researcher at The University of Texas at Austin.

The prevailing explanation of heterosexual pair bonding and romantic love in humans is that it evolved from the mother-infant bond present in many mammals. In a paper published in the journal Evolutionary Anthropology, anthropology professor Aaron Sandel cites primate research — including his own decadelong studies of chimpanzees in Kibale National Park, Uganda — to propose instead that this behavior evolved in humans from same-sex pair bonding already present in a common ancestor of humans and chimpanzees.

A pair bond is a cooperative relationship between nonrelated adults that remains stable over time and includes an emotional connection, rather than being merely transactional. Chimpanzees, humans’ closest relative, do not pair bond with their mates, but adult males of the species form same-sex bonds lasting as long as 13 years.