Single genomic test could speed up diagnoses for rare genetic diseases

Image Credit: Sinousxl

A new approach to analyzing exome sequencing data reliably detects large-scale genetic changes and could reduce the number of genetic tests a child might need.

A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children, enabling earlier diagnoses for families and saving the NHS vital resources.

Researchers from the University of Exeter, along with collaborators at the Wellcome Sanger Institute, and the University of Cambridge, reassessed genetic data from nearly 10,000 families from the Deciphering Developmental Disorders study.

In a new study, recently published in Genetics in Medicine, they show for the first time that using exome sequencing – which reads only protein-coding DNA – is as accurate, if not better, than standard microarrays at identifying disease-causing structural genetic variations.

Its adoption offers hope for faster and more accurate diagnoses of rare genetic diseases. It could also deliver substantial cost savings for the NHS, though more training is needed for specialists to generate and analyze the data, say researchers.

First atlas of the human ovary with cell-level resolution is a step toward artificial ovary

University of Michigan BME graduate student Jordan Machlin shows to prof. Ariella Shikanov and fellows grad student Margaret Brunette the images of oocytes in ovarian tissue she collected using RNA-fluorescence in situ hybridization.
Photo Credit: Marcin Szczepanski/Lead Multimedia Storyteller, Michigan Engineering

A new “atlas” of the human ovary provides insights that could lead to treatments restoring ovarian hormone production and the ability to have biologically related children, according to University of Michigan engineers.

This deeper understanding of the ovary means researchers could potentially create artificial ovaries in the lab using tissues that were stored and frozen before exposure to toxic medical treatments such as chemotherapy and radiation. Currently, surgeons can implant previously frozen ovarian tissue to temporarily restore hormone and egg production. However, this does not work for long because so few follicles—the structures that produce hormones and carry eggs—survive through reimplantation, the researchers say.

The new atlas reveals the factors that enable a follicle to mature, as most follicles wither away without releasing hormones or an egg. Using new tools that can identify what genes are being expressed at a single-cell level within a tissue, the team was able to home in on ovarian follicles that carry the immature precursors of eggs, known as oocytes.

Chemical reactions can scramble quantum information as well as black holes

Rice University theorist Peter Wolynes and collaborators at the University of Illinois Urbana-Champaign have shown that molecules can be as formidable at scrambling quantum information as black holes.
Image Credit: Courtesy of Martin Gruebele; DeepAI was used in image production

If you were to throw a message in a bottle into a black hole, all of the information in it, down to the quantum level, would become completely scrambled. Because in black holes this scrambling happens as quickly and thoroughly as quantum mechanics allows, they are generally considered nature’s ultimate information scramblers.

New research from Rice University theorist Peter Wolynes and collaborators at the University of Illinois Urbana-Champaign, however, shows that molecules can be as formidable at scrambling quantum information as black holes. Combining mathematical tools from black hole physics and chemical physics, they have shown that quantum information scrambling takes place in chemical reactions and can nearly reach the same quantum mechanical limit as it does in black holes. The work is published online in the Proceedings of the National Academy of Sciences.

“This study addresses a long-standing problem in chemical physics, which has to do with the question of how fast quantum information gets scrambled in molecules,” Wolynes said. “When people think about a reaction where two molecules come together, they think the atoms only perform a single motion where a bond is made or a bond is broken.

Tomorrow's reefs – the importance of environmental awareness in coral restoration

Restoration nursery in the northern Red Sea of smooth cauliflower coral (Stylophora pistillata), almost ready for reef transplantation. Classified as near-threatened, S. pistillata is native to the wider Indo-Pacific region. This nursery is at 5 metres depth, close to the Inter University Institute of Marine Science, Eilat.
Photo Credit: H Nativ/Morris Kahn Marine Research

Around the world, projects are underway to save or rebuild damaged coral reefs. However, many restoration projects fail within just a few years. Giving more consideration to current and future environmental conditions would, in many cases, improve long-term restoration success, say the researchers behind a new article published in Plos Biology.

Coral reefs are extremely valuable. An estimated 25 percent of all plants and animals in the ocean, and 1 billion people worldwide depend on them – for food, income, coastal protection or cultural traditions. But their existence is also threatened by multiple factors, such as climate change, pollution, overfishing and coastal development.

Relying on climate change mitigation alone to ensure the future viability of coral reefs is no longer realistic. Targeted efforts are now needed, and restoration of damaged coral reefs has today become a multimillion-dollar business. Nevertheless, the long-term outcome of many coral restoration projects is highly uncertain.

Plucking key evidence from air

PhD candidate Emily Bibbo and Dr Mariya Goray at the DNA forensics research room at Flinders University.
Photo Credit: Courtesy of Flinders University

Culprits may one day be found using a new technique to potentially pick up and record key airborne forensic DNA evidence from crime scenes wiped clean of fingerprints and other trace evidence.

A new study led by Flinders University forensic science researchers puts the new method to the test with conventional air-conditioning units as well as a portable, commercially available air collection device regularly used to test for COVID19 and other airborne viruses in hospitals, schools and nursing homes.

“Human DNA can be found in the air after people have spoken or breathed (via saliva droplets), shed skin cells or dislodged and aerosolized from surfaces and collected for DNA analysis,” says Emily Bibbo, a PhD candidate at Flinders University’s College of Science and Engineering.

“We may be able to use this as evidence to prove if someone has been in the room, even if they wore gloves or wiped surfaces clean to remove the evidence.”

Collection of trace DNA, comprising just a few human cells, is commonly used in criminal investigations. For example, 62% of all samples processed by Forensic Science SA in 2020 were trace or touch evidence, yet success rates with this type of evidence remain poor.

Discovery of how limiting damage from an asthma attack could stop disease

Scientists at King’s have discovered a new cause for asthma that sparks hope for treatment that could prevent the life-threatening disease.
Image Credit: Copilot DALL-E 3 AI Generated

Most current asthma treatments stem from the idea that it is an inflammatory disease. Yet, the life-threatening feature of asthma is the attack or the constriction of airways, making breathing difficult. A new study, published in the journal Science, shows for the first time that many features of an asthma attack—inflammation, mucus secretion, and damage to the airway barrier that prevents infections - result from this mechanical constriction in a mouse model.

The findings suggest that blocking a process that normally causes epithelial cell death could prevent the damage, inflammation, and mucus that result from an asthma attack.

Professor Jody Rosenblatt from the School of Basic & Medical Biosciences said: “Our discovery is the culmination of more than ten years of work. As cell biologists who watch processes, we could see that the physical constriction of an asthma attack causes widespread destruction of the airway barrier. Without this barrier, asthma sufferers are far more likely to get long-term inflammation, wound healing, and infections that cause more attacks. By understanding this fundamental mechanism, we are now in a better position to prevent all these events.”

Rapid, simultaneous detection of multiple bacteria achieved with handheld sensor

Marking bacteria electrochemically for rapid detection   
From left: Image of bacteria labeled with electrochemical markers, an electrochemical instrument to measure the data, and an image of the data displayed on a smartphone.     
Image Credit: Hiroshi Shiigi, Osaka Metropolitan University

Hearing the words E. coli or salmonella and food poisoning comes to mind. Rapid detection of such bacteria is crucial in preventing outbreaks of foodborne illness. While the usual practice is to take food samples to a laboratory to see the type and quantity of bacteria that forms in a petri dish over a span of days, an Osaka Metropolitan University research team has created a handheld device for quick on-site detection.

Led by Professor Hiroshi Shiigi of the Graduate School of Engineering, the team experimented with a biosensor that can simultaneously detect multiple disease-causing bacterial species within an hour.

“The palm-sized device for detection can be linked to a smartphone app to easily check bacterial contamination levels,” Professor Shiigi explained.

His team synthesized organic metallic nanohybrids of gold and copper that do not interfere with each other, so that electrochemical signals can be distinguished on the same screen-printed electrode chip of the biosensor. These organic−inorganic hybrids are made up of conductive polymers and metal nanoparticles. The antibody for the specific target bacteria was then introduced into these nanohybrids to serve as electrochemical labels.

Prehistoric henge reveals centuries-old sacred site in Lincolnshire

An aerial view of the excavation site at Crowland.
Photo Credit: The Anchor Church Field Project

Archaeologists from Newcastle University have unearthed evidence for an evolving sacred landscape spanning centuries in Crowland, Lincolnshire.

Crowland today is dominated by the ruins of its medieval abbey. However, local tradition holds that the area was the site of an Anglo-Saxon hermitage belonging to Saint Guthlac, who died in the year 714 and was famed for his life of solitude, having given up a life of riches as the son of a nobleman.

When his uncorrupted body was discovered 12 months after his death, Guthlac was venerated by a small monastic community dedicated to his memory. Guthlac’s popularity while he was alive, and the success of this cult and the pilgrimage it inspired, were key factors in the establishment of Crowland Abbey in the 10th century to honor the saint.

Early historical sources for Guthlac’s life exist, mainly through the Vita Sancti Guthlaci (Life of Saint Guthlac) written shortly after his death by a monk called Felix. Although there is little other evidence about his life, it was believed that Guthlac created his hermitage from a previously plundered barrow, or burial mound. For years, archaeologists have tried to find its location, and while Anchor Church Field was widely held to be the most likely site, the lack of excavation and the increasing impact of agricultural activity in the area have prevented a comprehensive understanding of the area.   

The team, which also included experts from the University of Sheffield, excavated Anchor Church Field and, to their surprise, found a much more complex and older history than they expected.

The first discovery they made was a previously unknown Late Neolithic or early Bronze Age henge, a type of circular earthwork and one of the largest ever discovered in eastern England.

Airy cellulose from a 3D printer

Complexity and lightness: Empa researchers have developed a 3D printing process for biodegradable cellulose aerogel.
Photo Credit: Empa

Ultra-light, thermally insulating and biodegradable: Cellulose-based aerogels are versatile. Empa researchers have succeeded in 3D printing the natural material into complex shapes that could one day serve as precision insulation in microelectronics or as personalized medical implants.

At first glance, biodegradable materials, inks for 3D printing and aerogels don't seem to have much in common. All three have great potential for the future, however: "green" materials do not pollute the environment, 3D printing can produce complex structures without waste, and ultra-light aerogels are excellent heat insulators. Empa researchers have now succeeded in combining all these advantages in a single material. And their cellulose-based, 3D-printable aerogel can do even more.

The miracle material was created under the leadership of Deeptanshu Sivaraman, Wim Malfait and Shanyu Zhao from Empa's Building Energy Materials and Components laboratory, in collaboration with the Cellulose & Wood Materials and Advanced Analytical Technologies laboratories as well as the Center for X-ray Analytics. Together with other researchers, Zhao and Malfait had already developed a process for printing silica aerogels in 2020. No trivial task: Silica aerogels are foam-like materials, highly open porous and brittle. Before the Empa development, shaping them into complex forms had been pretty much impossible. "It was the logical next step to apply our printing technology to mechanically more robust bio-based aerogels," says Zhao.

The researchers chose the most common biopolymer on Earth as their starting material: cellulose. Various nanoparticles can be obtained from this plant-based material using simple processing steps. Doctoral student Deeptanshu Sivaraman used two types of such nanoparticles – cellulose nanocrystals and cellulose nanofibers – to produce the "ink" for printing the bio-aerogel.

Cystic fibrosis: why infections persist despite therapy

The anchor points present on the surface of the airways in cystic fibrosis (left image, in red) decrease when the balance between the two cell signaling pathways is restored (right image).
Image Credit: Marc Chanson et al, 2024

Cystic fibrosis is a genetic disease that causes serious and sometimes fatal respiratory and digestive disorders. A new treatment, available since 2020, improves lung function and quality of life. However, it does not always eradicate the bacteria responsible for respiratory infections. By studying 3D models of human lung cells, scientists at the University of Geneva (UNIGE) discovered that this drug does not prevent the development on the surface of the respiratory tract of ''docking stations'' to which bacteria attach themselves to infect the body. These docking stations result from a disruption in the signals involved in cell development in the respiratory system. By combining the current treatment with other molecules, it may be possible to restore cell balance and thus better prevent bacterial infections. These results are published in the American Journal of Respiratory Cell and Molecular Biology.

Cystic fibrosis is the most common genetic disease. Each year, it affects one in every 3,300 newborns in Switzerland. Mutations in the gene responsible for the CFTR protein cause the secretion of excessively thick mucus, which obstructs the airways. Although a triple therapy, available in Switzerland since 2020, has improved the quality of life of people with cystic fibrosis, it is not suitable for all those affected and does not always prove effective.