Aurelia Butler

Many sufferers of rare diseases endure an odyssey until the correct diagnosis is made. “The goal is to detect such diseases at an early stage and initiate appropriate therapy as soon as possible,” says Prof. Dr. Peter Krawitz from the Institute for Genomic Statistics and Bioinformatics (IGSB) at the University Hospital Bonn (Germany). The researcher is a member of the Cluster of Excellence ImmunoSensation2 and the Transdisciplinary Research Area “Modelling” at the University of Bonn.
The majority of rare diseases are genetic. The underlying hereditary mutations often cause varying degrees of impairment in different areas of the body. In most cases, these hereditary changes are also expressed by characteristic facial features: for example, because eyebrows, the base of the nose or the cheeks are shaped in a distinctive way. However, this varies from disease to disease. Artificial intelligence (AI) uses these facial characteristics, calculates the similarities, and automatically links them to clinical symptoms and genetic data of patients. “The face provides us with a starting point for diagnosis,” says Tzung-Chien Hsieh of Krawitz’s team. “It is possible to calculate what the disease is with a high degree of accuracy.”
“GestaltMatcher” requires only a few patients
The AI system “GestaltMatcher” described in the current publication is a continued development of “DeepGestalt,” which the IGSB team trained with other institutions a few years ago. While DeepGestalt still required about ten non-related affected persons as a reference for training, its successor “GestaltMatcher” requires significantly fewer patients for feature matching. This is a great advantage in the group of very rare diseases, where only a few patients are reported worldwide. Furthermore, the new AI system also considers similarities with patients who have also not yet been diagnosed, and thus combinations of characteristics that have not yet been described. GestaltMatcher therefore also “recognizes” diseases that were previously unknown to it and suggests diagnoses based on this. “This means we can now classify previously unknown diseases, search for other cases and provide clues as to the molecular basis,” says Krawitz.
The team used 17,560 patient photos, most of which came from digital health company FDNA, which the research team worked with developing the web service through which the AI can be used. Around 5,000 of the photos and patient data were contributed by the research team at the Institute of Human Genetics at the University of Bonn, along with nine other university sites in Germany and abroad. The researchers focused on disease patterns that were as diverse as possible. They were able to consider a total of 1,115 different rare diseases. “This wide variation in appearance trained the AI so well that we can now diagnose with relative confidence even with only two patients as our baseline at best, if that’s possible,” Krawitz says.
“We are very happy to finally have a phenotype analysis solution for the ultra-rare cases, which can help clinicians solve challenging cases, and researchers to progress rare disease understanding,” says Aviram Bar-Haim of FDNA Inc. in Boston, USA. In Germany, too, the application in doctors’ offices, for example, is not far off, adds Krawitz. Doctors can already use their smartphones to take a portrait photo of a patient and use AI to make differential diagnoses, he says. “GestaltMatcher helps the physician make an assessment and complements expert opinion.”
Peter Krawitz and his team turned over the data they collected themselves to the non-profit Association for Genome Diagnostics (AGD), to provide researchers with access. “The GestaltMatcher Database (GMDB) will improve the comparability of algorithms and provide the basis for further development of artificial intelligence for rare diseases, including other medical image data such as X-rays or retinal images from ophthalmology,” Krawitz says.
Participating institutions and funding:
In addition to the Institute for Genomic Statistics and Bioinformatics and the Institute of Human Genetics of the University Hospital Bonn, the Charité-Universitätsmedizin Berlin, the universities of Greifswald, Tübingen, Düsseldorf, Lübeck, Heidelberg, the Technical University of Munich as well as universities from South Africa, France, the USA and Norway were involved. The study was mainly funded by the German Research Foundation (DFG).
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Materials provided by University of Bonn. Note: Content may be edited for style and length. More

Rare earth elements are hard to get and hard to recycle, but a flash of intuition led Rice University scientists toward a possible solution.
The Rice lab of chemist James Tour reports it has successfully extracted valuable rare earth elements (REE) from waste at yields high enough to resolve issues for manufacturers while boosting their profits.
The lab’s flash Joule heating process, introduced several years ago to produce graphene from any solid carbon source, has now been applied to three sources of rare earth elements — coal fly ash, bauxite residue and electronic waste — to recover rare earth metals, which have magnetic and electronic properties critical to modern electronics and green technologies.
The researchers say their process is kinder to the environment by using far less energy and turning the stream of acid often used to recover the elements into a trickle.
The study appears in Science Advances.
Rare earth elements aren’t actually rare. One of them, cerium, is more abundant than copper, and all are more abundant than gold. But these 15 lanthanide elements, along with yttrium and scandium, are widely distributed and difficult to extract from mined materials. More

A person who is generous and caring at home may be cutthroat at work, striving to bring in the most sales or advance up a corporate management chain. In a similar vein, a self-centered neighbor may be a model of altruism on Twitter.
It’s a widespread feature of human society: People can adopt different behaviors depending on the social context they’re in. Yet according to a new study by Penn biologists out today in Science Advances, that context-dependent behavior tends to promote the spread of cooperative behavior across a whole society.
Using models rooted in game theory, the researchers show that cooperation is particularly favored when there is room for “spillover” between domains. In other words, a worker can observe how their colleague behaves with her friends when deciding how to interact with that person and others in the workplace.
“We studied groups both small and large,” says Joshua Plotkin, a professor in Penn’s Department of Biology and senior author on the new paper, “and we find that the simple idea of conditioning behavior on the social context, while allowing imitation of behaviors across different contexts — that alone facilitates cooperation in all domains simultaneously.”
That work, along with a related study in Nature Human Behaviour, suggests that the greater the number of domains of social life, the higher the likelihood that cooperative interactions will eventually dominate.
“This shows that the structure of interactions in different aspects of our social lives can galvanize each other — for the benefit of mutual cooperation,” Plotkin says. More

Imagine a small autonomous vehicle that could drive over land, stop, and flatten itself into a quadcopter. The rotors start spinning, and the vehicle flies away. Looking at it more closely, what do you think you would see? What mechanisms have caused it to morph from a land vehicle into a flying quadcopter? You might imagine gears and belts, perhaps a series of tiny servo motors that pulled all its pieces into place.
If this mechanism was designed by a team at Virginia Tech led by Michael Bartlett, assistant professor in mechanical engineering, you would see a new approach for shape changing at the material level. These researchers use rubber, metal, and temperature to morph materials and fix them into place with no motors or pulleys. The team’s work has been published in Science Robotics. Co-authors of the paper include graduate students Dohgyu Hwang and Edward J. Barron III and postdoctoral researcher A. B. M. Tahidul Haque.
Getting into shape
Nature is rich with organisms that change shape to perform different functions. The octopus dramatically reshapes to move, eat, and interact with its environment; humans flex muscles to support loads and hold shape; and plants move to capture sunlight throughout the day. How do you create a material that achieves these functions to enable new types of multifunctional, morphing robots?
“When we started the project, we wanted a material that could do three things: change shape, hold that shape, and then return to the original configuration, and to do this over many cycles,” said Bartlett. “One of the challenges was to create a material that was soft enough to dramatically change shape, yet rigid enough to create adaptable machines that can perform different functions.”
To create a structure that could be morphed, the team turned to kirigami, the Japanese art of making shapes out of paper by cutting. (This method differs from origami, which uses folding.) By observing the strength of those kirigami patterns in rubbers and composites, the team was able to create a material architecture of a repeating geometric pattern. More

The kagome pattern, a network of corner-sharing triangles, is well known amongst traditional Japanese basket weavers — and condensed matter physicists. The unusual geometry of metal atoms in the kagome lattice and resulting electron behaviour makes it a playground for probing weird and wonderful quantum phenomena that form the basis of next-generation device research.
A key example is unconventional — such as high-temperature — superconductivity, which does not follow the conventional laws of superconductivity. Most superconducting materials exhibit their seemingly magical property of zero resistance at a few degrees Kelvin: temperatures that are simply impractical for most applications. Materials that exhibit so-called ‘high-temperature’ superconductivity, at temperatures achievable with liquid nitrogen cooling (or even at room temperature), are a tantalising prospect. Finding and synthesising new materials that exhibit unconventional superconductivity has become the condensed matter physicist’s Holy Grail — but getting there involves a deeper understanding ofexotic, topological electronic behaviour in materials.
An exotic type of electron transport behaviour that results in a spontaneous flow of charge in loops has long been debated as a precursor to high-temperature superconductivity and as a mechanism behind another mysterious phenomenon: the quantum anomalous Hall effect. This topological effect, the subject of F. Duncan M. Haldane’s 2016 Nobel Prize winning work, occurs in certain two-dimensional electronic materials and relates to the generation of a current even in the absence of an applied magnetic field. Understanding the quantum anomalous Hall effect is important not only for fundamental physics, but also for the potential applications in novel electronics and devices. Now, a PSI-led international collaboration has discovered strong evidence supporting this elusive electron transport behaviour.
Time-reversal symmetry-breaking charge ordering in the kagome superconductor KV3Sb5
The team, led by researchers from PSI’s Laboratory for Muon Spin Spectroscopy, discovered weak internal magnetic fields indicative of an exotic charge ordering in a correlated kagome superconductor. These magnetic fields break so-called time-reversal symmetry, a type of symmetry that means that the laws of physics are the same whether you look at a system going forward or backward in time.
A natural explanation of the occurrence of time-reversal symmetry-breaking fields is a novel type of charge order. The charge ordering can be understood as a periodic modulation of the electron density through the lattice and rearrangement of the atoms into a higher-order (superlattice) structure. The team focused their study on the kagome lattice, KV3Sb5, which superconducts below 2.5 Kelvin. Below a higher critical temperature of approximately 80 Kelvin, a giant quantum anomalous Hall effect is observed in the material, which was previously unexplained. The exotic charge ordering appears below this critical temperature of approximately 80 Kelvin, termed the ‘charge ordering temperature’. More

Among many of the Tsimane’ people, who live in a remote region of the Bolivian rainforest, numbers do not play an important role in their lives, and people living in this society vary widely in how high they can count.
A new study from MIT and the University of California at Berkeley has found a relationship between the counting ability of Tsimane’ individuals and their success at matching tasks that involve numbers up to about 25. The researchers found that most subjects could accurately perform tasks that require matching numbers of objects, but only up to the highest number that they could count to.
The results suggest that in order to represent an exact quantity larger than four, people may need to have a word for that number, says Edward Gibson, an MIT professor of brain and cognitive sciences.
“This finding provides the clearest evidence to date that number words play a functional role in people’s ability to represent exact quantities larger than four, and supports the broader claim that language can enable new conceptual abilities,” says Gibson, one of the authors of the new study.
Berkeley postdoc Benjamin Pitt is the lead author of the paper, which appears today in Psychological Science. Steven Piantadosi, an assistant professor of psychology at Berkeley, is the senior author of the study.
Words count
The Tsimane’ are a farming and foraging society of about 13,000 people in the Amazonian rainforest. Most Tsimane’ children start going to school around age 5, but education levels and counting ability vary considerably. The Tsimane’ language has words for numbers up to 100, and words for numbers larger than that are borrowed from Spanish. More

Can you crumple up two sheets of paper the exact same way? Probably not — the very flexibility that lets flexible structures from paper to biopolymers and membranes undergo many types of large deformations makes them notoriously difficult to control. Researchers from the Georgia Institute of Technology, Universiteit van Amsterdam, and Universiteit Leiden have shed new light on this fundamental challenge, demonstrating that new physical theories provide precise predictions of the deformations of certain structures, as recently published in Nature Communications.
In the paper, Michael Czajkowski and D. Zeb Rocklin from Georgia Tech, Corentin Coulais from Universiteit van Amsterdam, and Martin van Hecke of AMOLF and Universiteit Leiden approach a highly studied exotic elastic material, uncover an intuitive geometrical description of the pronounced — or nonlinear — soft deformations, and show how to activate any of these deformations on-demand with minimal inputs. This new theory reveals that a flexible mechanical structure is governed by some of the same math as electromagnetic waves, phase transitions, and even black holes.
“So many other systems struggle with how to be strong and solid in some ways but flexible and compliant in others, from the human body and micro-organisms to clothing and industrial robots,” said Rocklin. “These structures solve that problem in an incredibly elegant way that permits a single folding mechanism to generate a wide family of deformations. We’ve shown that a single folding mode can transform a structure into an infinite family of shapes.”
A Brief History of Metamaterials
Metamaterials rely on the use of hinges, folds, cuts, and “flexible” ingredients to display the variety of counterintuitive physics that has been steadily revealed over the past decade of intense research. Many of these new behaviors have emerged from the development of auxetics, materials that tend to shrink in all directions when they are compressed from any direction rather than bulging outward. Although the researchers’ chosen structure, “Rotating Squares,” is already one of the most heavily researched metamaterials, they uncovered entirely new and powerful physics hiding within its deformations.
“Normally complex real-world structures defy analytical physics, which made it all the more thrilling when Michael found that his conformal predictions could account for 99.9% of the variance in Corentin’s structure,” said Rocklin. “This new approach could allow us to predict and control tough, flexible structures from the size of skyscrapers to the microscale.”
Conformal Findings
The results of this paper rely on the novel observation that these maximally auxetic metamaterials deform conformally, which the researchers confirmed with a high degree of accuracy. This means that any angle drawn on the material before and after deformation will still look like the same angle. This seemingly mundane observation activates powerful mathematical structures.
This conformal insight allows for a variety of pen-and-paper analytic advances: a nonlinear energy functional, deformation fitting methods, new prediction methods etc. This culminates with a recipe to choose any of these conformal deformations in an exact, reversible, and mathematically straightforward manner via the manipulation of the boundary. By choosing how much the boundary is stretched, the overall shape can be picked from infinite possibilities.
Such deformation control is still limited by the essential nature of conformal deformations. However, the underlying principles are quite general, and researchers are working to apply these new principles to more varied and complex structures.
“Our results are very promising for the soft microscopic robotics that are being developed for non-invasive surgical purposes,” said Czajkowski. “In this effort, scalability and precise external control are two of the primary goalposts, and our style of deformation control seems perfectly suited for the job.”
The jump to more provocative applications is likely not far off, as the realm of metamaterials has steadily become populated with manipulatable faces, a variety of new grabbers and hands, and even an elastic worm that can thread a series of needles. These advances will become essential in the effort to develop soft microscopic robots, which must be externally manipulated to move through a body and perform noninvasive surgeries. More