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All normal human tissues acquire mutations over time. Some of these mutations may be driver mutations that promote the development of cancer through increased proliferation and survival, while other mutations may be neutral passenger mutations that have no impact on cancer development. Currently, it is unclear how the normal self-renewal process of the skin called homeostasis impacts the development and evolution of gene mutations in cells. In a new study published in the Proceedings of the National Academy of Sciences (PNAS), Moffitt Cancer Center used mathematical and computer modeling to demonstrate the impact of skin homeostasis on driver and passenger mutations.
Skin cells undergo a normal life and death cycle of homeostasis. Cells in the lower basal layer proliferate, grow and move into the upper layers of the skin while undergoing cell differentiation and maturation. Eventually, the skin cells migrate into the uppermost layer of the skin where they form a protective barrier, die and are sloughed off.
Homeostasis is typically maintained in the skin. Its thickness and growth do not significantly change over time, despite the accumulation of mutations. This is different from other tissue types that undergo increased growth and proliferation due to mutations. However, scientists are not sure how cell mutations in the skin evolve and form subclones, or groups of cells derived from a single parent cell, without impacting normal skin homeostasis.
Moffitt researchers developed a computer simulation model to address these uncertainties and improve their understanding of the impact of skin homeostasis on gene mutations and subclone evolution. Computer modeling can address complex biological relationships among cells that cannot be studied in typical laboratory settings. The researchers built their model based on the normal structure of the skin, including a constant cell number based on self-renewal, a constant tissue height and a constant number of immature stem cells. They incorporated patient mutation data using GATTACA, a tool allowing you to introduce and track mutations, into their model to assess how mutations and UV exposure impact skin homeostasis and clonal populations. They also investigated the impact of two genes that are commonly mutated in nonmelanoma skin cancer, NOTCH1 and TP53.
“This study prompted the creation of several new tools, such as GATTACA, which allows you to induce and track base pair resolution mutations in any agent-based modeling framework with temporal, spatial and genomic positional information,” said the study’s lead author Ryan Schenck, Ph.D., a mathematical oncology programmer in Moffitt’s Department of Integrated Mathematical Oncology. “Along with my lab colleague Dr. Chandler Gatenbee, we also developed EvoFreq to help visualize evolutionary dynamics, now being used in many of our publications.”
The researchers demonstrated that both passenger and driver mutations exist in subclones within the skin with a similar size and frequency. Most mutations that occur in immature stem cells are lost or are present in smaller subclones due to random stem cell death and replacement, while larger subclones are likely due to persistence and older age. Large NOTCH1and TP53 subclones are rarely observed because they would destroy the homeostasis of the skin; however, those large subclones that do exist likely arose during an early age.
The researchers used their model to determine when subclones with NOTCH1 and TP53mutations have a selective fitness advantage over neighboring cells without mutations. They showed using their model that subclones with NOTCH1 mutations may prevent neighboring cells from dividing into their positions, while subclones with TP53 mutations may be resistant to cell death from UV exposure. The researchers hope that their model can be used to study other processes impacted by homeostasis that cannot be studied with typical laboratory approaches.
“This work broadens our current understanding of selection and fitness acting in a homeostatic, normal tissue, where subclone size more reflects persistence rather than selective sweeps, with larger subclones being predominately older subclones,” said Alexander Anderson, Ph.D., chair of Moffitt’s Department of Integrated Mathematical Oncology. “This model strives to provide a means to explore mechanisms of increased fitness in normal, homeostatic tissue and provides a simple framework for future researchers to model their hypothesized mechanisms within squamous tissue.”
This study was supported by grants received from the National Cancer Institute (U54CA193489, U54CA217376, P01 CA196569, U01CA23238), the Wellcome Trust (108861/7/15/7, 206314/Z/17/Z), the Wellcome Centre for Human Genetics (203141/7/16/7) and Moffitt’s Center of Excellence for Evolutionary Therapy.

Mayo Clinic researchers have found that using artificial intelligence (AI) algorithms to analyze patterns of changes in women who are in labor can help identify whether a successful vaginal delivery will occur with good outcomes for mom and baby. The findings were published in PLOS ONE.
“This is the first step to using algorithms in providing powerful guidance to physicians and midwives as they make critical decisions during the labor process,” says Abimbola Famuyide, M.D., a Mayo Clinic OB-GYN and senior author of the study. “Once validated with further research, we believe the algorithm will work in real time, meaning every input of new data during an expectant woman’s labor automatically recalculate the risk of adverse outcome. This may help reduce the rate of cesarean delivery, and maternal and neonatal complications.”
Women in labor understand the importance of periodic cervical examinations to gauge the progress of labor. This is an essential step, as it helps obstetricians predict the likelihood of a vaginal delivery in a specified period of time. The problem is that cervical dilation in labor varies from person to person, and many important factors can determine the course of labor.
In the study, researchers used data from the Eunice Kennedy Shriver National Institute of Child Health and Human Development’s multicenter Consortium on Safe Labor database to create the prediction model. They examined more than 700 clinical and obstetric factors in 66,586 deliveries from the time of admission and during labor progression.
The risk-prediction model consisted of data known at the time of admission in labor, including patient baseline characteristics, the patient’s most recent clinical assessment, as well as cumulative labor progress from admission. The researchers explain that the models may provide an alternative to conventional labor charts and promote individualization of clinical decisions using baseline and labor characteristics of each patient.
“It is very individualized to the person in labor,” says Dr. Famuyide. He adds that this will be a powerful tool for midwives and physicians remotely as it will allow time for transfers of patients to occur from rural or remote settings to the appropriate level of care.
“The AI algorithm’s ability to predict individualized risks during the labor process will not only help reduce adverse birth outcomes but it can also reduce healthcare costs associated with maternal morbidity in the U.S., which has been estimated to be over $30 billion,” adds Bijan Borah, Ph.D., Robert D. and Patricia E. Kern Scientific Director for Health Services and Outcomes Research.
Validation studies are ongoing to assess the outcomes of these models after they were implemented in labor units.
This study was conducted in collaboration with scientists from the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. The authors have declared no competing or potential conflicts of interest.
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Materials provided by Mayo Clinic. Original written by Kelley Luckstein. Note: Content may be edited for style and length.

The use of biomarker and genetic tests during pregnancy is now extremely widespread. But what if both parents’ genes were broadly analyzed for possible risks prior to conception? Are there any rare hereditary diseases in the genome that the father and/or mother are unknowingly carrying? If both parents have the same genetic defect in their genes and both pass this on to their child, this will often cause the child to have a serious illness.
In many parts of the US, broad genetic testing is offered to prospective parents and is usually also recommended in early pregnancy. The screenings predominantly indicate recessively inherited genes that are non-gender specific — in other words, those that have an effect only if both gene copies carry a mutation. Recessive genes on the X chromosome are a special case, whereby healthy mothers can pass this gene onto their children. However, normally only sons suffer from the consequences this mutation as they carry only one X chromosome and therefore do not have a second gene copy to compensate for the defect.
More than 3,000 hereditary factors tested
Do these genetic tests for inherited risk factors deliver what they promise? Anita Rauch, director of medical genetics at the University of Zurich, and her team in Switzerland have now for the first time addressed this question by extensively studying the potential and pitfalls of such expanded carrier screening (ECS). To this end, the scientists tested sequence data from 700 parents who already had children with neurodevelopmental disorders. Many of the more than 3,000 investigated genes can cause intellectual disabilities, developmental disorders, autism and other disorders.
“In our study, we were able to show that this type of broad genetic testing can detect the risk of the child having a severe developmental disorder in about 44 percent of cases if the parents are related by blood — for instance as first or second cousins,” says Anita Rauch. In some population groups this is quite common, for example in the Middle East or North Africa.
Gaps in risk detection for non-consanguineous couples in particular
The test still detected about 5 percent of cases in couples who were not blood related — but only if all known recessive genes were investigated. According to the recommendations in the US however, non-consanguineous couples should only be tested for common genes that are known to have a certain carrier frequency in the population. “Following the US recommendation would more than halve the risk detection rate, because rarer genes also play a part here,” explains Rauch.

Specific changes in our movement patterns can be indicators of several health problems: For instance, decrease in strength often correlates with risk of falls, mild cognitive impairment, depression, sleep problems, respiratory problems, cardiac arrhythmias and increasing myocardial weakness or worsening of a COVID-19 infection. In older individuals, systematic detection of such changes could help identify chronic diseases such as dementia, Parkinson’s disease, or heart disease at an early stage. These age-related health problems are often discovered late, and their progression is usually difficult to assess objectively.
An interdisciplinary research team led by Tobias Nef of the ARTORG Center for Biomedical Engineering Research, and Professor Emeritus of Cardiology Hugo Saner of the University of Bern and Bern University Hospital, now shows how large-scale, sensor-based health monitoring could tackle these problems. The researchers combined a variety of everyday activity and behavior patterns measured by sensors in the homes of elderly study participants helping them to create a summary picture. “We used non-contact sensors at home to create an extensive collection of digital measures that capture broad parts of daily life, behavior and physiology, in order to identify health risks of older people at an early stage,” explains study first author and postdoctoral researcher Dr. Narayan Schütz. This may benefit early detection as well as foster development of personalized treatments and research into new therapeutic approaches and drugs. The study was published in npj Digital Medicine.
Reliable system accepted by seniors
The researchers initially collected 1,268 health parameters using non-interaction sensors particularly tailored to the senior demographic. The deployed system consists of simple, contactless motion sensors in each room, a bed sensor under the mattress, and door sensors on the front door and on the refrigerator. Connected to a base station, the system analyzes the registered motion signals and can inform relatives or an alarm center in the event of problems or emergencies — such as when a person does not return to bed at night. The researchers then evaluated the data collected in this way using machine learning approaches.
“We were able to show that such a systems approach — in contrast to the common use of a few health metrics — allows to detect age-relevant health problems such as cognitive impairment, fall risk or frailty surprisingly well,” says Tobias Nef, Professor of Gerontechnology and Rehabilitation at the ARTORG Center and co-last author of the study. Compared to wearable devices, this sensor-based home monitoring approach was perceived well among seniors: As the interdisciplinary research group led by Tobias Nef and Hugo Saner was able to prove in a scientific collaboration of computer science, behavioral research and medicine spanning more than ten years, older test subjects in Switzerland found the daily operation of mobile devices rather cumbersome, and some were unable to handle them at all due to dexterity or cognitive problems. In particular, older adults above 80 years of age clearly preferred a zero-interaction system such as the one used in the study.
In addition, data protection and privacy are prioritized: “To ensure privacy and data protection on a technical level, the highest Swiss and European medical data security standards are applied,” Narayan Schütz points out. To secure privacy, the deployed sensors also do not record sound or video and their installation is entirely voluntary — both aspects that the study participants appreciated.
Great potential
The evaluation and combination of the large amount of everyday health data also offers the potential to identify possible new aging-relevant digital biomarkers: “For example, we found indications that fall risk could significantly depend on certain sleep parameters,” explains Tobias Nef.
Prof. Hugo Saner, who was responsible for clinical data collection and is co-last author of the study, assesses the clinical relevance of the results: “Such a system marks a milestone in early detection of worsening health for seniors living alone into old age. We assume that it can make a significant contribution to enabling older people to live at home for as long as possible by delaying hospital admissions and transfers to nursing institutions or, in the best case, even avoiding them.” According to the researchers, better early detection, and personalized treatment of typical diseases of old age would not only help older people achieve better health, but also reduce healthcare costs.
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Breast tissue features apparent on MRI are linked with future second breast cancer risk in women with a personal history of breast cancer, according to a study published in Radiology, a journal of the Radiological Society of North America (RSNA).
Breast cancer is the most diagnosed cancer and the leading cause of cancer-related death in women worldwide. While advances in treatment and early detection mean that more women are surviving breast cancer, these women face an increased risk of second breast cancers.
Breast cancer survivors with dense breasts face an even greater risk of a second cancer. Breast tissue is mostly fatty, with areas of fibrous connective tissue and glandular tissue known collectively as fibroglandular tissue. Women with dense breasts have a greater proportion of fibroglandular tissue and less fatty tissue. This can obscure lesions on mammography and is an independent risk factor for breast cancer.
Breast MRI has become the preferred method for imaging women with personal history of breast cancer. Previous studies have shown that breast MRI has a higher cancer detection rate than mammography.
“Postoperative surveillance breast MRI is increasingly being performed according to the American College of Radiology’s annual recommendation for women with dense breasts or those diagnosed with breast cancer before age 50,” said study lead author Su Hyun Lee, M.D., Ph.D., from the Department of Radiology at Seoul National University Hospital in Seoul, Korea.
Dr. Lee and colleagues studied the link between second cancer risk and background parenchymal enhancement (BPE) at surveillance breast MRI. BPE refers to the brightening, or enhancement, of background tissue on MRI after administration of a contrast agent. The degree of BPE can vary between and within women. It is thought to be related to changes in the blood supply and permeability of breast tissue, which is affected by hormonal status. Breast cancer treatment in the form of radiation therapy, chemotherapy or endocrine therapy can also alter the BPE in the treated breast.

The brain activity patterns during sleep shed light on the neurobiology behind a genetic condition called 22q11.2 Deletion Syndrome (22q11.2DS) and could be used as a biomarker to detect the onset of neuropsychiatric disorders in people with 22q11.2DS.
22q11.2DS is caused by a gene deletion of around 30 genes on chromosome 22 and occurs in 1 in 3000 births. It increases the risk of intellectual disability, autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD) and epileptic seizures. It is also one of the largest biological risk factors for schizophrenia. However, the biological mechanisms underlying psychiatric symptoms in 22q11.2DS are unclear.
“We have recently shown that the majority of young people with 22q11.2DS have sleep problems, particularly insomnia and sleep fragmentation, that are linked with psychiatric disorders,” says co-senior author Marianne van den Bree, Professor of Psychological Medicine at Cardiff University, UK. “However, our previous analysis was based on parents reporting on sleep quality of their children, and the neurophysiology — what’s happening to brain activity — has not yet been explored.”
An established way of measuring brain activity during sleep is an electroencephalogram (EEG). This measures electrical activity during sleep and features patterns called spindles and slow-wave (SW) oscillations. These features are hallmarks of non-rapid eye movement (NREM) sleep and are thought to aid memory consolidation and brain development. “Because sleep EEG is known to be altered in many neurodevelopmental disorders, the properties and coordination of these alterations can be used as biomarkers for psychiatric dysfunction” explained lead author Nick Donnelly, Clinical Lecturer in General Adult Psychiatry at the University of Bristol, UK
To explore this in 22q11.2DS, the team recorded sleep EEG over one night in 28 young people aged 6-20 years old with the chromosome deletion and in 17 unaffected siblings, recruited as part of the Cardiff University Experiences of Children with copy number variants (ECHO) study, led by Prof. van den Bree. They measured correlations between sleep EEG patterns and psychiatric symptoms, as well as performance in a recall test the next morning.
They found that the group with 22q11.2DS had significant alterations in sleep patterns including a greater proportion of N3 NREM sleep (slow-wave sleep) and lower proportions of N1 (the first and lightest sleep stage) and rapid eye movement (REM) sleep, compared with their siblings. Those carrying the chromosome deletion also had increased EEG power for both slow-wave oscillations and spindles. There was also an increase in the frequency and density of spindle patterns and stronger coupling between the spindle and slow-wave EEG features in the 22q112.DS group. These changes may reflect alterations in the connections within and between areas of the brain that generate these oscillations, the cortex and the thalamus.
Participants also took part in a 2D object location task before sleep, where they had to remember where matching cards were on a screen. They were tested again on the same task in the morning, and the team found that in those with 22q11.2DS, higher spindle and SW amplitudes were associated with lower accuracy. By contrast, in participants without the chromosome deletion, higher amplitudes were linked to higher accuracy in the morning recall test.
Finally, the team estimated the impact of the differences in sleep patterns on psychiatric symptoms in the two groups using a statistical method called mediation. They calculated the total effect of genotype on psychiatric measures and IQ, the indirect (mediated) effect of EEG measures, and then the proportion of the total effect that may be mediated by EEG patterns. They found that the effects on anxiety, ADHD and ASD driven by the 22q11.2 deletion were partially mediated by sleep EEG differences.
“Our EEG findings together suggest a complex picture of sleep neurophysiology in 22q11.2DS and highlight differences that could serve as potential biomarkers for 22q11.2DS-associated neurodevelopmental syndromes,” concluded co-senior author Matt Jones, Professorial Research Fellow in Neuroscience, University of Bristol, UK. “Further study will now need to clarify the relationship between psychiatric symptoms, sleep EEG measures and neurodevelopment, with a view to pinpointing markers of brain circuit dysfunction that could inform doctors which patients are most at risk, and support treatment decisions.”
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The study reveals an important route through which fascin promotes cancer development and provides insights into potential pathways that could block its action.
Fascin is known to control the structures that allow cells to move — specifically the assembly of bundles of a protein called actin, which create the tiny ‘legs’ that cancer cells use to migrate to distant sites within the body. Fascin is also known to be at much higher levels in most solid tumours, where it helps cancer cells migrate and invade into other tissues. This invasion — or ‘metastasis’ — of tumour cells is the main reason why many cancers are so hard to treat
“We have previously shown that fascin resides in the control centre of the cell — the nucleus — at certain times in the cell’s growth cycle,” explains lead author Campbell Lawson, Research Associate at the Randall Centre for Cell and Molecular Biophysics, King’s College London, UK. “However, it was not known how fascin’s movement or function within the nucleus are controlled, and this hinders our ability to develop treatments that block its role in promoting cancer growth and spread.”
To understand fascin further, the team created a series of cancer cell lines with and without functional fascin, as well as a suite of fascin ‘nanobodies’ labelled with fluorescent markers, to alter its location in cells and explore its interactions with other proteins in the nucleus.
They found that fascin is actively transported in and out of the nucleus and, once there, it supports the assembly of actin bundles. Indeed, cells without fascin were unable to build nuclear actin bundles to the same extent. Fascin also interacted with another group of important proteins in the cell nucleus, called histones. When fascin is not involved in bundling actin, it is bound to histone H3 — an important player involved in organising DNA within the nucleus.
Given the interaction of fascin with histones, the team looked at whether fascin was also involved in DNA repair processes in cancer cells, which helps them to survive. They found DNA repair was impaired in cells lacking fascin, indicating that the protein might be required for cancer cells to trigger their response to DNA damage caused by chemo- or radiotherapy. Fascin-depleted cells also had changes to their chromatin structure — the way the DNA is packaged in the cell — compared to cells with normal fascin levels.
Although nuclear fascin plays an important role in nuclear actin assembly, DNA structure and repair, it is also important in the cell cytoplasm, where it helps cancer cells build tiny appendages called filopodia, which promote invasion. So the team wanted to understand whether moving all fascin into the nucleus would prevent the cytoplasmic function of fascin. As they anticipated, in cells with enhanced nuclear fascin, the number of filopodia was significantly reduced because there was no fascin in the cytoplasm to support assembly of these structures. The cells also invaded less into 3-dimensional scaffolds that mimic the tissue surrounding tumours. Importantly, cells that had forced nuclear fascin had significantly reduced growth rates and viability because they assembled large stable actin bundles in the nucleus which prevented them from going through the cell cycle. Collectively, these results indicate that, rather than trying to find ways to block fascin, forcing it all into the nucleus of cancer cells could prevent their growth and movement.
“Our study provides insights into a new role for fascin in controlling nuclear actin bundling to support tumour cell viability,” concludes senior author Maddy Parsons, Professor of Cell Biology at the Randall Centre for Cell and Molecular Biophysics, King’s College London. “Given fascin is at very high levels in many solid tumours, but not in normal tissues, this molecule is an interesting therapeutic target. We propose that promoting fascin accumulation in the nucleus of cancer cells, rather than only focusing on targeting it in the cell cytoplasm, could be an alternative approach that would prevent both tumour growth and spread.”
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A first-of-its-kind study conducted in collaboration with LSU’s School of Kinesiology, LSU Athletics, Pennington Biomedical Research Center and Our Lady of the Lake researched how the immune system of elite student-athletes responded to the COVID-19 virus.
The football players who were diagnosed with COVID-19 were able to have their immune system back to its baseline after the CDC-recommended isolation. This is in stark contrast with older adults with comorbidities, who tend to be more at risk for serious side effects and symptoms, and even death.
“When COVID-19 really started moving out of control, we met with Neil Johannsen, an exercise physiologist at LSU, and the athletic trainers Derek Calvert and Jack Marucci, and we discussed what we could do to make sure our athletes remained healthy. We especially wanted to make sure that athletes were not at risk for secondary infections when they came back from isolation,” said Guillaume Spielmann, associate professor in LSU’s School of Kinesiology.
Isolation Effective After COVID Infection
“When the idea started for the research, we discussed why not turn something negative into a positive, and assist with the research to find some answers. If we can do things to understand the virus better, let’s do it,” said Jack Marucci, LSU’s Director of Athletic Training. “The student-athletes were willing to be a part of it.”
During that time at the start of the COVID pandemic, the CDC had recommended 14 days of isolation.

Conventional dishwashers often do not kill all the harmful microorganisms left on plates, bowls, and cutlery. They also require long cycle times that use large quantities of electricity, and the soap pumped in and out is released into water sources, polluting the environment.
Superheated steam dishwashers could provide a more effective, environmentally friendly solution. In Physics of Fluids, by AIP Publishing, researchers from the Technical University of Dortmund and the Technical University of Munich simulated such a dishwasher, finding that it killed 99% of bacteria on a plate in just 25 seconds.
The model of an idealized dishwasher looks like a box with solid side walls, a top opening, and a nozzle at the bottom. A plate covered with a heat-resistant strain of bacteria is placed directly above the nozzle. Once the plate reaches a certain threshold temperature in the simulation, the microorganisms are deemed inactivated.
“Steam comes out of the nozzle at a very high velocity. We can see shocks, and the turbulent flow that is created has eddies and vortices,” said author Natalie Germann, of the Technical University of Dortmund. “We also include heat transfer, which shows how the heat changes in the simulation box and the condensation on the solid surfaces.”
The shock waves, created by the high velocity of the steam, are reflected at surfaces in the dishwasher. While the team focused on bacteria in this work, the shocks could be used to effectively remove food debris in the future.
“Our study helps determine the strength of the shocks, the position of the shocks, and the vortices that are created inside the dishwasher,” said author Laila Abu-Farah, of the Technical University of Munich. “These things are very important for arranging the items or objects inside the dishwasher and the placement and orientation of the nozzles.”
While the simulations show quick inactivation of the bacteria, actual applications of the dishwasher would include more than one plate and therefore require more time. However, the researchers believe it would still be much faster and more effective than conventional technology.
The superheated steam dishwasher would initially cost more but would pay off in the long run with savings on water, electricity, and detergent. It would be ideal for use in restaurants, hotels, and hospitals, which must meet high hygienic standards.
“We confirmed that the dishwasher application using superheated steam is promising,” said Germann. “This is the first work combining fluid dynamics and heat transfer with phase change and bacterial inactivation. It thus lays the foundation for future computational research and further technical work.”
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In 2004, construction workers in Norwich, UK, unearthed human skeletal remains that led to a historical mystery — at least 17 bodies at the bottom of a medieval well. Using archeological records, historical documents, and ancient DNA, British researchers have now identified the individuals to be a group of Ashkenazi Jews who may have fallen victim to antisemitic violence during the 12th century. Their findings, presented on August 30 in the journal Current Biology, shed new light on Jewish medical history in Europe.
“It’s been over 12 years since we started looking into who these people are, and the technology finally caught up with our ambition,” says evolutionary geneticist and corresponding author Ian Barnes of the Natural History Museum, London. “Our main job was to establish the identity of those individuals at the ethnic level.”
The deceased individuals were found to carry some genetic disorders, for which modern-day Ashkenazi Jewish populations are at higher risk. Genetic disorders that are particularly common in certain populations can arise during bottleneck events, where a rapid reduction of population can lead to big jumps in the number of people carrying otherwise rare genetic mutations.
Using computer simulations, the team showed that the number of such disease mutations in the remains was similar to what they would expect if the diseases were as common then as they are now in Ashkenazi Jews. The results point to a bottleneck event that shaped the modern-day Ashkenazi Jewish population prior to the 12th century, earlier than previous beliefs, which dated the event about 500 to 700 years ago.
Unlike other mass burial sites, where bodies were laid in an organized fashion, skeletons from this well were oddly positioned and mixed, most likely because they were deposited head first shortly after death. Archeological investigations reported six adults and 11 children at the unusual burial location. Together, these findings hint at mass fatalities such as famine, disease, or murder. Radiocarbon dating of the remains placed their deaths around the late 12th to early 13th century — a period with well-documented outbreaks of antisemitic violence in England — leading researchers to consider foul play.
To piece together the individuals’ past lives, the team dug into the DNA of six skeletons from the well by using new technology that decodes millions of DNA fragments at once. The results showed that the individuals were almost certainly Ashkenazi Jews. Among them, four were closely related, including three full-sibling sisters — a 5- to 10-year-old, a 10- to 15-year-old, and a young adult. DNA analysis also inferred the physical traits of a 0- to 3-year-old boy to include blue eyes and red hair, the latter a feature associated with historical stereotypes of European Jews.
“It was quite surprising that the initially unidentified remains filled the historical gap about when certain Jewish communities first formed and the origins of some genetic disorders,” says evolutionary geneticist and co-author Mark Thomas of the University College London. “Nobody had analyzed Jewish ancient DNA before because of prohibitions on the disturbance of Jewish graves. However, we did not know this until after doing the genetic analyses.”
After learning the identity of the remains, the local community arranged a formal Jewish burial for the individuals. Barnes and Thomas say that they still don’t know what directly caused the 17 individuals’ demise, and it’s a puzzle that ancient DNA can’t solve. However, working with local historians, archeologists, and the community, the researchers offered new insights into historical violence and the origins of the Ashkenazi Jewish population.
“When you study ancient DNA from people who’ve died hundreds to thousands of years ago, you don’t often get to work with a living community at the same time,” says Barnes. “It’s been really satisfying to work with this community on a story that’s so important to them.”
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