Publisher Health

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants. The study, “A Comparative Analysis of Rapid Whole Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder: The Genomic Medicine for Ill Neonates and Infants (GEMINI) Study,” was first published online on The Journal of the American Medical Association (JAMA) website on July 11, 2023.
Funded by the National Institutes of Health, the first-of-its-kind GEMINI Study enrolled 400 newborns and infants under the age of one year, with a wide variety of suspected, undiagnosed genetic disorders, at six centers across the United States. Each newbon/infant received both WGS, which can identify variants in all 20,000 genes in the human body, and NewbornDx, a targeted gene sequencing test which can identify variants in 1,722 genes known to be linked to genetic disorders in newborns/infants. The researchers found that WGS detected a genetic disorder in 49 percent of patients, while the targeted gene sequencing test identified a genetic disorder in 27 percent of study participants. The targeted panel missed 40 percent of diagnoses that WGS captured. In addition, the researchers also found 134 new genetic diagnoses that had never before been described. Overall, 51 percent of patients in the study were diagnosed with a genetic disorder with either test.
“More than half of the babies in our study had a genetic disorder that would have remained undetected at most hospitals across the country if not for genome sequencing technologies,” said Jonathan Davis, MD, Chief of Newborn Medicine at Tufts Medical Center and Co-Principal Investigator of the study. “Successfully diagnosing an infant’s genetic disorder as early as possible helps ensure they receive the best medical care. This study shows that WGS, while still imperfect, remains the gold standard for accurate diagnosis of genetic disorders in newborns and infants.”
But WGS is not without its disadvantages, the researchers noted. On average, it took nearly two full days longer (six days vs. four days) to receive routine results from WGS compared to the targeted gene sequencing test. The targeted test is also less expensive, and since it screens for specific genetic disorders that only appear in newborns and infants, its use eliminates the risk of unintentionally revealing potential health risks later in life, such as Alzheimer’s disease or cancer, that the child’s parents may not want to know.
The GEMINI Study also identified an additional concern: a lack of standardization in neonatal genetics interpretation. In 40 percent of cases, different laboratories disagreed on whether a mutually acknowledged gene abnormality was the cause of the suspected genetic disorder in the newborn/infant.
“Many neonatologists and geneticists use genome sequencing panels, but it’s clear there are a variety of different approaches and a lack of consensus among geneticists on the causes of a specific patient’s medical disorder,” said Jill Maron, MD, MPH, Chief of Pediatrics at Women & Infants Hospital of Rhode Island and Co-Principal Investigator of the study. “Genome sequencing can be costly, but in this targeted, at-risk population, it proves to be highly informative. We are supportive of ongoing efforts to see these tests covered by insurance.”
Additional study sites include Rady Children’s Hospital in San Diego, Mt. Sinai Hospital, University of North Carolina-Chapel Hill, Cincinnati Children’s Hospital and the University of Pittsburgh.
“This study provides further evidence that genetic disorders are common among newborns and infants,” said Stephen F. Kingsmore, MD, DSc, President and CEO of Rady Children’s Institute for Genomic Medicine and a co-investigator and second author of the study. “The findings strengthen support for early diagnosis by rapid genomic sequencing, allowing for the use of precision medicine to better care for this vulnerable patient population.”
The GEMINI study is supported by a National Center For Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) grant to Tufts Medical Center, under Award Number U01TR00271. The authors note several limitations and conflicts of interest, which are described in the study.

Biomedical engineers at Duke University have developed an entirely new approach to building point-of-care diagnostic devices that only use gravity to transport, mix and otherwise manipulate the liquid droplets involved. The demonstration requires only commercially available materials and very little power to read results, making it a potentially attractive option for applications in low-resource settings.
“The elegance in this approach is all in its simplicity — you can use whatever tools you happen to have to make it work,” said Hamed Vahabi, a former postdoctoral researcher at Duke, who is now a lead analysis engineer at GE Hitachi. “You could theoretically even just use a handsaw and cut the channels needed for the test into a piece of wood.”
The study conducted in the laboratory of Ashutosh Chilkoti, the Alan L. Kaganov Distinguished Professor of Biomedical Engineering at Duke, appears online July 11 in the journal Device.
There is no shortage of need for simple, easy-to-use, point-of-care devices. Many demonstrations and commercial devices seek to make diagnoses or measure important biomarkers using only a few drops of liquid with as little power and expertise required as possible. Their goal is to improve health care for the billions of people living in low-resource settings far from traditional hospitals and trained clinicians.
All of these tests have the same basic requirements; they must move, mix and measure small droplets containing biological samples and the active ingredients that make measuring specific biomarkers possible. More expensive examples use tiny electrical pumps to drive these reactions. Others use the physics of liquids within microchannels (microfluidics) that create a sort of suction effect.
This is the first demonstration that only uses gravity. Each approach offers uniquely useful abilities as well as drawbacks.

“Most microfluidic devices need more than just capillary forces to operate,” Chilkoti said. “This approach is much simpler and also allows very complex fluid paths to be deigned and operated, which is not easy or cheap to do with microfluidics.”
The new gravity-driven approach relies on a set of nine commercially available surface coatings that can tweak the wettability and slipperiness at any given point on the device. That is, they can adjust how much droplets flatten down into pancakes or remain spherical while making it easier or harder for them to slide down an incline.
Used together in clever combinations, these surface coatings can create all the microfluidic elements needed in a point-of-care test. For example, if a given location is extremely slippery and a droplet is placed at an intersection where one side pulls liquid flat and the other pushes it into a ball, it will act like a pump and accelerate the droplet toward the former.
“We came up with many different elements to control the motion, interaction, timing and sequence of multiple droplets in the device,” Vahabi said. “All of these phenomena are well-known in the field, but nobody thought of using them to control the motion of droplets in a systematic way before.”
By combining these elements, the researchers created a prototype test to measure the levels of lactate dehydrogenase (LDH) in a sample of human serum. They carved channels within the test platform to create specific pathways for droplets to travel, each coated with a substance that stops the droplets from sticking along their journey. They also primed specific locations with dried reagents needed for the test, which are soaked up by droplets of simple buffer solution as they travel through.

The whole maze-like test is then capped with a lid containing a couple of holes where the sample and buffer solution are dripped in. Once loaded, the test is placed inside a box-like device with a handle that turns the test 90 degrees to allow gravity to do its work. This device is also equipped with a simple LED and light detector that can quickly and easily detect the amount of blue, red, or green in the test results. This means that the researchers can tag three different biomarkers with different colors for various tests to measure.
In the case of this prototype LDH test, the biomarker is tagged with a blue molecule. A simple microcontroller measures how deep of a blue hue the test results become and how quickly it changes color — which indicates the amount and concentration of LDH in the sample — to generate results.
“We could eventually also use a smart phone down the line to measure results, but that’s not something we explored in this specific paper,” said Jason Liu, a PhD candidate in the Chilkoti lab.
The demonstration provides a new approach for consideration when engineering inexpensive, low-power, point-of-care diagnostic devices. While the group plans to continue developing their idea, they also hope others will take notice and work on similar tests.
“While a well-designed microfluidic system can be fully automated and easy-to-use by passive means, the timing of discrete steps is usually programmed into the design of the device itself, making modifications to protocol more difficult,” added David Kinnamon, a PhD candidate in the Chilkoti group. “In this work, the user retains more control of the timing of steps while only modestly sacrificing ease-of-operation. Again, this is an advantage for more complex protocols.”
This work was supported by the National Institutes of Health (R01AI159992).

Scientists at the USDA Agricultural Research Service’s (ARS) Grand Forks Human Nutrition Research Center led a studythat demonstrates it is possible to build a healthy diet with 91 percent of the calories coming from ultra-processed foods (as classified using the NOVA scale) while still following the recommendations from the 2020-2025 Dietary Guidelines for Americans (DGA). The study highlights the versatility of using DGA recommendations in constructing healthy menus.
“The study is a proof-of-concept that shows a more balanced view of healthy eating patterns, where using ultra-processed foods can be an option,” said ARS Research Nutritionist Julie Hess at the Grand Forks Human Nutrition Research Center. “According to current dietary recommendations, the nutrient content of a food and its place in a food group are more important than the extent to which a food was processed.”
In the study, scientists used the NOVA scale to determine which foods to classify as ultra-processed. The NOVA scale first appeared in literature in 2009 and is the most commonly used scale in nutrition science to classify foods by degree of processing.
According to the NOVA scale, foods can be classified into four groups depending on their degree of processing: (1) Unprocessed or minimally processed foods; (2) Processed culinary ingredients; (3) Processed foods; and (4) Ultra-processed foods.
To test if ultra-processed foods can be used to build a healthy diet, ARS scientists and collaborators created a menu with breakfast, lunch, dinner, and snacks using MyPyramid as a guide for a seven-day, 2,000-calorie food pattern The menu consisted of foods categorized as ultra-processed by at least two NOVA graders. The foods included in the menu also aligned with 2020 DGA recommendations for servings of groups and subgroups of fruits, vegetables, grains, protein foods, and dairy. Scientists selected food products that have lower levels of saturated fats and added sugars while still containing enough micronutrients and macronutrients. Some of the ultra-processed foods used in this menu included canned beans, instant oatmeal, ultra-filtered milk, whole wheat bread, and dried fruit.
“We used the Healthy Eating Index to assess the quality of the diet as it aligns with key DGA recommendations,” said Hess. “The menu we developed scored 86 of 100 points on the Healthy Eating Index-2015, meeting most of the thresholds, except for sodium content [exceeded recommendations] and whole grains [below recommendations].”
Scientists will continue researching this concept, understanding that observational research indicates that ultra-processed products could be associated with adverse health outcomes. This research shows that there is a role for a variety of foods when building a healthy diet and that more research is needed in this field, especially intervention studies.
Details of the study were published in The Journal of Nutrition by Julie M. Hess (USDA-ARS), Madeline E. Comeau (USDA-ARS), Shanon Casperson (USDA-ARS), Joanne L. Slavin (University of Minnesota), Guy H. Johnson (Johnson Nutrition Solutions, LLC), Mark Messina (Soy Nutrition Institute Global), Susan Raatz (University of Minnesota), Angela J. Scheett (USDA-ARS), Anne Bodensteiner (University of North Dakota), Daniel G. Palmer (USDA-ARS).

The body’s blood glucose level needs to be maintained in a relatively narrow range. It cannot be too high, as it can lead to diabetes, and it cannot be too low because it can cause fainting or even death.
“There are many glucose-sensing neurons in the brain that are thought to actively participate in detecting small changes of glucose levels in the body and then trigger responses accordingly to return the level to a healthy range,” said Dr. Yong Xu, professor of pediatrics- nutrition, molecular and cellular biology, and medicine at Baylor. “But there have been several questions about this for a long time.”
Does the brain play a role in blood glucose regulation?
The accepted concept is that blood glucose levels are tightly controlled by hormones secreted in the pancreas, such as insulin and glucagon. So, some scientists have wondered, do glucose-sensing neurons in the brain really play a role in the regulation of whole-body glucose level?
In this study published in the Journal of Clinical Investigation, Xu and his colleagues examined the role of a particular group of glucose-sensing neurons in maintaining blood glucose balance in animal models.
“Glucose-sensing neurons can be divided into two groups according to how they respond to glucose fluctuations,” Xu explained. “One group is called glucose-excited (GE) neurons and the other is the glucose-inhibited (GI) neurons. In this study, we focused on the second group, the less studied of the two.”
GE neurons are activated or excited when the glucose level around them is higher. “This is expected because glucose is a fuel for most cells, including neurons,” Xu said. “Having more fuel available would support increased cell activity.”

On the other hand, GI neurons are inhibited when glucose levels are higher and paradoxically, they are activated when glucose levels are lower. “This has been puzzling to researchers, as they were expecting the opposite, less neuronal activity when glucose is low,” Xu said. “We wanted to understand the mechanism that triggered GI neuronal activity under low glucose levels and whether this contributed to blood glucose balance.”
The researchers focused on GI neurons located in a region called the ventromedial hypothalamic nucleus (VMH) in the mouse brain. Specifically, they studied which ion channels on GI neurons mediated low-glucose sensing. Ion channels are proteins on the surface of neurons that allow charged ions to flow in and out of the cell. This process is necessary for neuronal activation or firing.
“We found that an ion channel called anoctamin 4 (ano4) is required for the activation of GI neurons in response to low glucose,” Xu said. “In fact, our data shows that ano4 is a marker defining GI neurons. If a VMH neuron expresses ano4, then it is a GI neuron. If a VMH neuron does not express ano4, it is not a GI neuron.”
GI neurons and type 1 diabetes
Next, the researchers investigated the role of GI neurons in the regulation of blood glucose in a mouse model of type 1 diabetes. In this model, insulin-producing pancreatic beta cells are absent. The lack of insulin triggers increased blood sugar levels, the hallmark of diabetes. By genetically eliminating the ano4 gene in the GI neurons located in the VMH in these diabetic mice, the researchers substantially normalized blood sugar levels.
“Our findings suggest that glucose-sensing neurons in the brain are important for whole body glucose regulation. We found that GI neurons have an important function during diabetes, when pancreatic beta cells are not producing insulin to control blood sugar levels,” Xu said. “In this case, blood glucose levels can be manipulated quite effectively in the mouse model by knocking out a single gene in GI neurons, a small group of cells in the brain. Next, we want to determine whether pharmacological inhibition of ano4 would also help control blood glucose levels in this model of type 1 diabetes, and in models of type 2 diabetes.”
Other contributors to this work include Longlong Tu, Jonathan C. Bean, Yang He, Hailan Liu, Meng Yu, Hesong Liu, Nan Zhang, Na Yin, Junying Han, Nikolas Anthony Scarcelli, Kristine Marie Conde, Mengjie Wang, Yongxiang Li, Bing Feng, Peiyu Gao, Zhao-Lin Cai, Makoto Fukuda, Mingshan Xue, Qingchun Tong, Yongjie Yang, Lan Liao, Jianming Xu, Chunmei Wang and Yanlin He. The authors are affiliated with one or more of the following institutions: Baylor College of Medicine, Louisiana State University — Baton Rouge, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and University of Texas Health Science Center -Houston.
The study was supported by grants from the National Institutes of Health (P01DK113954, R01DK115761, R01DK117281, R01DK125480, R01DK120858, K01DK119471, R01 DK114279, R01DK120858, R01DK109934, R21NS108091, R01DK104901, R01DK12665, R01DK129548, R01MH117089, P01DK113954-AMC and R01CA193455). Further support was provided by USDA/CRIS (51000-064-01S and 3092-51000-064-02S), DOD W81XWH-19-1-0429, McKnight Foundation and American Heart Association Postdoctoral Fellowships (2020AHA000POST000204188 and 20POST35120600).

Climate change is not only making Georgia hotter but also increasing the likelihood of snake bite, according to a new study. Every degree Celsius of daily temperature increase corresponds with about a 6% increase in snake bites, researchers found. The results are published in GeoHealth, which publishes research investigating the intersection of human and planetary health for a sustainable future.
Snakes are cold-blooded animals, so they are generally more active in warmer weather. And globally, temperatures are rising.
“Venomous snake bites are classified by the World Health Organization (WHO) as a high-priority neglected tropical disease,” said Noah Scovronick, a health and environmental scientist at Emory University who led the new study. Around the world, approximately 5 million people are bitten by snakes every year, and of those up to 138,000 people die, according to the WHO.
“We don’t know much about how weather — meaning short term changes in meteorology — drive human-snake interactions, partly because a lot of dangerous snake bites occur in places that lack good data on causes of morbidity and mortality,” Scovronick said.
Within the United States, Georgia is something of a snake hotspot, with one of the highest snake densities and diversities in the country. The state is home to 17 species of venomous snake, seven of which are dangerous enough to be of medical concern.
Scovronick and his colleagues analyzed statewide hospital data from 2014 to 2020, during which time there were 3,908 hospital visits due to venomous snake bites. They statistically compared hospitalizations to daily weather records, searching for strong associations between factors such as minimum and maximum air temperature, precipitation and humidity and snake bites. In their analysis, the researchers controlled for both the month and day of the week the bite occurred, which accounts at least partially for variability in human activity.

The occurrence of venomous snake bites was associated with increased maximum daily air temperatures, the researchers found. While summers had the highest numbers of snake bites, spring had the strongest association between temperatures and snake bites.
Scovronick speculated that the spring association could be because snakes “wake up” during that season, becoming more active and reproducing, while summer days could reach temperatures warm enough to slow snakes down. But that needs further exploration with species-level detail, he said. Other meteorological factors, such as humidity, had weaker or no associations with the rate of venomous snake bites.
The study did not include predictions for how snake bites could change in the future, and Scovronick emphasized the need to carry out similar studies in other states to get a nationwide picture of risk. “We can learn a lot about snake bite patterns even with fairly modest data and using established epidemiological methods,” he said. “This study demonstrates that.”
Just because Georgia is getting warmer doesn’t necessarily mean more people will be hospitalized because of venomous snake bites.
“The key factor to reducing negative encounters is education,” said Lawrence Wilson, a herpetologist at Emory University who was a co-author of the study. “Let people know what habitats snakes favor, such as places with dense groundcover, and they can be wary of such habitats. Snakes and people can live compatibly, even venomous snakes, as long as we respect and understand their habitats and needs.”
But between climate change heating up the state and urban areas expanding, the odds of people encountering snakes are already increasing, according to Wilson.
“As human development in Georgia and especially the Atlanta area are expanding rapidly, human-snake encounters are going to continue to increase and already have,” Wilson said. “Almost anyone who spends a lot of time outdoors will have encountered a copperhead or other venomous snake.”
The specific findings only relate to Georgia, but they highlight a pressing need for similar studies to be done in other parts of the world with different climate regimes and snake species, Scovronick said.

Deeper male voices in primates, including humans, offer more than sex appeal — they may have evolved as another way for males to drive off competitors in large groups that favored polygyny, or mating systems where a male has multiple mates, according to researchers. The research is the most comprehensive investigation of differences in vocal pitch between sexes to date and has the potential to help to shed light on social behavior in humans and their closest living relatives.
The average speaking pitch of an adult male human is about half the average pitch, an octave lower, than that of an adult female human, said David Puts, professor of anthropology at Penn State and study co-author.
“It’s a sex difference that emerges at sexual maturity across species and it probably influences mating success through attracting mates or by intimidating competitors,” he said. “I thought it has to be a trait that’s been subjected to sexual selection, in which mating opportunities influence which traits are passed down to offspring. Humans and many other primates are highly communicative, especially through vocal communication. So it seems like a really relevant trait for thinking about social behavior in humans and primates in general.”
The researchers used specialized computer software to visualize vocalizations and measure voice pitch in recordings from 37 anthropoid primate species, or those most closely related to humans, including gorillas, chimpanzees and recordings of 60 humans evenly divided by sex. Samples for each species included at least two male and two female vocal recordings, for a total of 1,914 vocalizations. The team then calculated average male and female vocal fundamental frequency for each species to see how pronounced the difference was between sexes.
The scientists collected additional information for each species to help identify correlations between male versus female voice pitch and factors that could have contributed to the trait’s evolution. Additional variables included body size and body mass differences between males and females, habitat type, adult sex ratios, mating competition intensity and testes size. They also categorized each species by mating system — monogamous, in which males and females have one mate at a time; polygynandrous, in which males and females have multiple mating partners; and polygynous, in which some males have several mates.
The researchers used these data to test five hypotheses simultaneously to identify which factors may have played the strongest roles in driving sex differences in vocal pitch. The hypotheses were: intensity of mating competition, large group size, multilevel social organization, trade-off against the intensity of sperm competition, and poor acoustic habitats. Previous research has looked at one or two of these hypotheses at a time. The current study is the first to test multiple hypotheses simultaneously for vocal pitch differences using a robust dataset, ensuring data consistency and garnering convincing results, according to Puts.
The team found that fundamental frequency differences by sex increased in larger groups and those with polygynous mating systems, especially in groups with a higher female-to-male ratio. They reported their findings today (July 10) in Nature Communications.
“Our findings highlight the important role of sexual selection and offer possible evolutionary explanations for why males and females differ in voice pitch across primates,” said Toe Aung, first author and assistant professor of psychology and counseling at Immaculata University, who worked on the study as part of his doctoral dissertation at Penn State. “This research also provides insight into sex differences in voice pitch in our common ancestors who lived millions of years ago.”
Deeper male voices may act as an additional way to fend off mating competitors without having to engage in costly fighting by making males sound bigger, in addition to other physical traits like height and muscle size, according to the researchers. In adult humans, for instance, males vocalize at an average of 120 hertz whereas females vocalize at an average of about 220 hertz, putting humans right in the middle of polygynous societies, the researchers reported.
“Although social monogamy is really common in humans, mating and reproduction in our ancestors was substantially polygynous,” Puts said. “Our findings help us to understand why male and female voices of our species differ so drastically. It may be a product of our evolutionary history, particularly our history of living in large groups in which some males reproduced with multiple females.”
Additional contributors to the study included Alexander Hill, University of Washington; Dana Pfefferle, University of Goettingen, Germany; Edward McLester, Max Planck Institute of Animal Behavior, Konstanz, Germany; James Fuller and Jenna Lawrence, Columbia University; Ivan Garcia-Nisa, Rachel Kendal and Megan Petersdorf, Durham University, U.K.; James Higham, New York University; Gerard Galat, French National Research Institute for Sustainable Development; Adriano Lameira, University of Warwick, U.K.; Coren Apicella, University of Pennsylvania; Claudia Barelli, University of Florence; Mary Glenn, Humboldt State University; and Gabriel Ramos-Fernandez, National Autonomous University of Mexico.
The German Research Foundation and the National Council of Humanities, Science and Technology of Mexico supported this research.

The entire biosynthetic pathway of actinopyridazone has been unveiled, revealing that an unprecedented carrier protein-mediated ring-forming step is key to its synthesis.
Nitrogen-nitrogen bond-containing cyclic compounds such as pyrazole, triazole, pyridazine and many others are critical building blocks for a variety of medicinal compounds, both natural and synthetic. The biosynthesis of some of these compounds hinges on the formation of nitrogen-nitrogen (N-N) single bonds between amino acids. However, the mechanisms by which a diversity of compounds is possible is poorly understood.
Dr. Kenichi Matsuda and Professor Toshiyuki Wakimoto at Hokkaido University led a team to elucidate the biosynthetic pathway of actinopyridazinone, an N-N bond-containing cyclic compound that is an important scaffold for synthetic drugs. Their findings were published in the journal Angewandte Chemie International Edition.
“Actinopyridazinone is produced by Streptomyces, a genus of bacteria that is the source of the majority of antibiotics of natural origin,” Wakimoto explains. “It is the first natural compound known to possess a dihydropyridazinone ring. This ring is also known as a ‘wonder nucleus,’ as it has been extensively studied as a precursor for a wide range of drugs.”
In previous work, the team used bioinformatics to identify a group of gene sequences that are potentially involved in the biosynthesis of natural products that contain N-N bonds, and from these genome sequences, they discovered the novel class of compounds called actinopyradizones. With a series of genetic and biochemical experiments, they were also able to unveil the first steps in the pathway; in this study, they focused on understanding how the dihydropyridazone ring is formed.
The gene cluster apy is the biosynthetic gene cluster associated with actinopyradizone synthesis. It contains 17 potential genes; knockout studies indicated that ten of these — apy1, apy2, apy3, apy4, apy6, apy8, apy9, apy10, apy11 and apy13 — were necessary for actinopyradizone synthesis. Biochemical analyses of the knockouts allowed the team to deduce that Apy3, an AMP-dependent synthetase/ligase, Apy4, a serine hydrolase, and Apy6, a carrier protein-rhodanese fusion, were the key proteins responsible for the formation of the dihydropyridazone ring.
“Apy6 functions as a carrier molecule; and Apy3 loads the intermediate compound onto Apy6,” Matsuda elaborates. “Apy4 then catalyses the removal of an acetyl group (-COCH3); the resulting molecule is unstable and spontaneously reacts to form a dihydropyridazone ring. The most notable feature of actinopyridazone biosynthesis is the unprecedented carrier protein-mediated machinery for dihydropyridazinone formation.”
Matsuda said that this study is the first description of the biosynthetic pathway for actinopyradizone, and is only the second study to report the enzyme-dependent biosynthesis of a N-N bond-containing ring structure. The first such compound is piperazic acid, whose biosynthetic pathways are completely unrelated; hence, this study has also highlighted that the biosynthetic pathways of N-N bond-containing cyclic compounds are very diverse.

In a world first, a ‘biological camera’ bypasses the constraints of current DNA storage methods, harnessing living cells and their inherent biological mechanisms to encode and store data. This represents a significant breakthrough in encoding and storing images directly within DNA, creating a new model for information storage reminiscent of a digital camera.
Led by Principal Investigator Associate Professor Chueh Loo Poh from the College of Design and Engineering at the National University of Singapore, and the NUS Synthetic Biology for Clinical and Technological Innovation (SynCTI), the team’s findings, which could potentially shake up the data-storage industry, were published in Nature Communications on 3 July 2023.
A new paradigm to address global data overload
As the world continues to generate data at an unprecedented rate, data has come to be seen as the ‘currency’ of the 21st century. Estimated to be 33 ZB in 2018, it has been forecasted that the Global Datasphere will reach 175 ZB by 2025. That has sparked a quest for a storage alternative that can transcend the confines of conventional data storage and address the environmental impact of resource-intensive data centres.
It is only recently that the idea of using DNA to store other types of information, such as images and videos, has garnered attention. This is due to DNA’s exceptional storage capacity, stability, and long-standing relevance as a medium for information storage.
“We are facing an impending data overload. DNA, the key biomaterial of every living thing on Earth, stores genetic information that encodes for an array of proteins responsible for various life functions. To put it into perspective, a single gram of DNA can hold over 215,000 terabytes of data — equivalent to storing 45 million DVDs combined,” said Assoc Prof Poh.

“DNA is also easy to manipulate with current molecular biology tools, can be stored in various forms at room temperature, and is so durable it can last centuries,” says Cheng Kai Lim, a graduate student working with Assoc Prof Poh.
Despite its immense potential, current research in DNA storage focuses on synthesising DNA strands outside the cells. This process is expensive and relies on complex instruments, which are also prone to errors.
To overcome this bottleneck, Assoc Prof Poh and his team turned to live cells, which contain an abundance of DNA that can act as a ‘data bank’, circumventing the need to synthesise the genetic material externally.
Through sheer ingenuity and clever engineering, the team developed ‘BacCam’ — a novel system that merges various biological and digital techniques to emulate a digital camera’s functions using biological components.
“Imagine the DNA within a cell as an undeveloped photographic film,” explained Assoc Prof Poh. “Using optogenetics — a technique that controls the activity of cells with light akin to the shutter mechanism of a camera, we managed to capture ‘images’ by imprinting light signals onto the DNA ‘film’.”
Next, using barcoding techniques akin to photo labelling, the researchers marked the captured images for unique identification. Machine-learning algorithms were employed to organise, sort, and reconstruct the stored images. These constitute the ‘biological camera’, mirroring a digital camera’s data capture, storage, and retrieval processes.
The study showcased the camera’s ability to capture and store multiple images simultaneously using different light colours. More crucially, compared to earlier methods of DNA data storage, the team’s innovative system is easily reproducible and scalable.
“As we push the boundaries of DNA data storage, there is an increasing interest in bridging the interface between biological and digital systems,” said Assoc Prof Poh.
“Our method represents a major milestone in integrating biological systems with digital devices. By harnessing the power of DNA and optogenetic circuits, we have created the first ‘living digital camera,’ which offers a cost-effective and efficient approach to DNA data storage. Our work not only explores further applications of DNA data storage but also re-engineers existing data-capture technologies into a biological framework. We hope this will lay the groundwork for continued innovation in recording and storing information.”

The immune system is one of the most complex parts of our body. It keeps us healthy by getting rid of parasites, viruses or bacteria, and by destroying damaged or cancer cells. One of its most intriguing abilities is its memory: upon first contact with a foreign component (called “antigens” in scientific jargon) our adaptive immune system takes around two weeks to respond, but responses afterwards are much faster, as if the cells “remembered” the antigen. But how is this memory attained? In a recent publication, a team of researchers coordinated by Dr. Ralph Stadhouders, from Erasmus MC, and Dr. Gregoire Stik, Group Leader at the Josep Carreras Leukaemia Research Institute, provides new clues on immune memory using state-of-the-art methodologies.
In their research paper, published in the scientific journal Science Immunology, the first-author Anne Onrust-van Schoonhoven and colleagues compared the response of immune cells that had never been in contact with an antigen (called naïve cells) with cells previously exposed to antigen (memory cells) and sort of knew it. They focused on the differences in the epigenetic control of the cellular machinery and the nuclear architecture of the cells, two mechanisms that could explain the quick activation pattern of memory cells.
While all the cells in an individual have the same genetic information, different cell types access to different parts of the DNA. The term “epigenetics” encompasses the mechanisms that dynamically control this access. The results of the research team revealed a particular epigenetic signature in memory cells, resulting in the rapid activation of a crucial set of genes compared to naive cells. These genes were much more accessible to the cellular machinery, in particular to a family of transcription factors called AP-1. To put it into a racing context: these genes have been warming-up ever since the cell’s first contact with the antigen.
However, this epigenetic signature was just the tip of the iceberg. It is known that the position of the DNA in the nucleus is not random and reflects the cell’s activation state. The researchers found that, indeed, the 3D distribution of DNA in the nucleus is different between naïve and memory immune cells. Key genes for the early immune response are grouped together and under the influence of the same regulatory regions, called enhancers. Keeping with the racing metaphor, the genes are not only warmed-up, but also gathered together at the starting line.
Although most of the research has focused on healthy cells, the scientific team wondered whether any of the mechanisms found could, when altered, explain actual diseases in which the immune system plays an important role. To address this question, they analyzed immune cells from chronic asthma patients and found that the circuits identified as key for an early and strong immune response were overactivated.
The epigenetic control of the immune system is a blossoming field and discoveries like the ones by Dr. Stik and colleagues are setting the stage for the next generation of epigenetic drugs and treatments, targeting autoimmune diseases and cancer.

Researchers from Queen Mary University of London have made groundbreaking advancements in bionics with the development of a new electric variable-stiffness artificial muscle. Published in Advanced Intelligent Systems, this innovative technology possesses self-sensing capabilities and has the potential to revolutionize soft robotics and medical applications. The artificial muscle seamlessly transitions between soft and hard states, while also sensing forces and deformations. With flexibility and stretchability similar to natural muscle, it can be integrated into intricate soft robotic systems and adapt to various shapes. By adjusting voltages, the muscle rapidly changes its stiffness and can monitor its own deformation through resistance changes. The fabrication process is simple and reliable, making it ideal for a range of applications, including aiding individuals with disabilities or patients in rehabilitation training.
In a study published recently in Advanced Intelligent Systems, researchers from Queen Mary University of London have made significant advancements in the field of bionics with the development of a new type of electric variable-stiffness artificial muscle that possesses self-sensing capabilities. This innovative technology has the potential to revolutionize soft robotics and medical applications.
Muscle contraction hardening is not only essential for enhancing strength but also enables rapid reactions in living organisms. Taking inspiration from nature, the team of researchers at QMUL’s School of Engineering and Materials Science has successfully created an artificial muscle that seamlessly transitions between soft and hard states while also possessing the remarkable ability to sense forces and deformations.
Dr. Ketao Zhang, a Lecturer at Queen Mary and the lead researcher, explains the importance of variable stiffness technology in artificial muscle-like actuators. “Empowering robots, especially those made from flexible materials, with self-sensing capabilities is a pivotal step towards true bionic intelligence,” says Dr. Zhang.
The cutting-edge artificial muscle developed by the researchers exhibits flexibility and stretchability similar to natural muscle, making it ideal for integration into intricate soft robotic systems and adapting to various geometric shapes. With the ability to withstand over 200% stretch along the length direction, this flexible actuator with a striped structure demonstrates exceptional durability.
By applying different voltages, the artificial muscle can rapidly adjust its stiffness, achieving continuous modulation with a stiffness change exceeding 30 times. Its voltage-driven nature provides a significant advantage in terms of response speed over other types of artificial muscles. Additionally, this novel technology can monitor its deformation through resistance changes, eliminating the need for additional sensor arrangements and simplifying control mechanisms while reducing costs.
The fabrication process for this self-sensing artificial muscle is simple and reliable. Carbon nanotubes are mixed with liquid silicone using ultrasonic dispersion technology and coated uniformly using a film applicator to create the thin layered cathode, which also serves as the sensing part of the artificial muscle. The anode is made directly using a soft metal mesh cut, and the actuation layer is sandwiched between the cathode and the anode. After the liquid materials cure, a complete self-sensing variable-stiffness artificial muscle is formed.
The potential applications of this flexible variable stiffness technology are vast, ranging from soft robotics to medical applications. The seamless integration with the human body opens up possibilities for aiding individuals with disabilities or patients in performing essential daily tasks. By integrating the self-sensing artificial muscle, wearable robotic devices can monitor a patient’s activities and provide resistance by adjusting stiffness levels, facilitating muscle function restoration during rehabilitation training.
“While there are still challenges to be addressed before these medical robots can be deployed in clinical settings, this research represents a crucial stride towards human-machine integration,” highlights Dr. Zhang. “It provides a blueprint for the future development of soft and wearable robots.”
The groundbreaking study conducted by researchers at Queen Mary University of London marks a significant milestone in the field of bionics. With their development of self-sensing electric artificial muscles, they have paved the way for advancements in soft robotics and medical applications.