New Artificial Intelligence Model Could Speed Rare Disease Diagnosis

A DNA strand with a highlighted area indicating a mutation
Image Credit: Scientific Frontline

Every human has tens of thousands of tiny genetic alterations in their DNA, also known as variants, that affect how cells build proteins.

Yet in a given human genome, only a few of these changes are likely to modify proteins in ways that cause disease, which raises a key question: How can scientists find the disease-causing needles in the vast haystack of genetic variants?

For years, scientists have been working on genome-wide association studies and artificial intelligence tools to tackle this question. Now, a new AI model developed by Harvard Medical School researchers and colleagues has pushed forward these efforts. The model, called popEVE, produces a score for each variant in a patient’s genome indicating its likelihood of causing disease and places variants on a continuous spectrum.

Why Do We Have a Consciousness?

Albert Newen from the Institute of Philosophy II
Photo Credit: © RUB, Marquard

What is the evolutionary advantage of our consciousness? And what can we learn about this from observing birds? Researchers at Ruhr University Bochum published two articles on this topic. 

Although scientific research about consciousness has enjoyed a boom in the past two decades, one central question remains unanswered: What is the function of consciousness? Why did it evolve at all? The answers to these questions are crucial to understanding why some species (such as our own) became conscious while others (such as oak trees) did not. Furthermore, observing the brains of birds shows that evolution can achieve similar functional solutions to realize consciousness despite different structures. The working groups led by Professors Albert Newen and Onur Güntürkün at Ruhr University Bochum, Germany, report their findings in a current special issue of the journal Philosophical Transactions of the Royal Society B.

Kleopatra

Image Credit: Scientific Frontline

In the modern digital ecosystem, the email inbox and local file storage remain vulnerable entry points for surveillance, data theft, and unauthorized access. While transport layer security (TLS) protects data in transit, it often leaves the data itself exposed at rest or at the endpoints. For professionals in journalism, law, science, and academia, relying solely on provider-managed security is increasingly insufficient.

The challenge lies in complexity: robust encryption standards like OpenPGP are historically difficult for non-technical users to implement, often requiring cumbersome command-line interactions.

Nasal drops fight brain tumors noninvasively

Researchers at WashU Medicine have developed a noninvasive medicine delivered through the nose that successfully eliminated deadly brain tumors in mice. The medicine is based on a spherical nucleic acid, a nanomaterial (labeled red) that travels along a nerve (green) from the nose to the brain, where it triggers an immune response to eliminate the tumor.
Image Credit: Courtesy of Alexander Stegh

Researchers at Washington University School of Medicine in St. Louis, along with collaborators at Northwestern University, have developed a noninvasive approach to treat one of the most aggressive and deadly brain cancers. Their technology uses precisely engineered structures assembled from nano-size materials to deliver potent tumor-fighting medicine to the brain through nasal drops. The novel delivery method is less invasive than similar treatments in development and was shown in mice to effectively treat glioblastoma by boosting the brain’s immune response.

Glioblastoma tumors form from brain cells called astrocytes and are the most common kind of brain cancer, affecting roughly three in 100,000 people in the U.S. Glioblastoma generally progresses very quickly and is almost always fatal. There are no curative treatments for the disease, in part because delivering medicines to the brain remains extremely challenging.

LJI scientists discover how T cells transform to defend our organs

The new study was led by Pandurangan Vijayanand, M.D., Ph.D., William K. Bowes Distinguished Professor at La Jolla Institute for Immunology
Photo Credit: Courtesy of La Jolla Institute for Immunology

We owe a lot to tissue resident memory T cells (TRM). These specialized immune cells are among the body’s first responders to disease. 

Rather than coursing through the bloodstream—as many T cells do—our TRM cells specialize in defending specific organs. They battle viruses, breast cancer, liver cancer, melanomas, and many other health threats. 

Pandurangan Vijayanand, M.D., Ph.D., William K. Bowes Distinguished Professor at La Jolla Institute for Immunology (LJI), has even shown that a greater density of TRM cells is linked to better survival outcomes in lung cancer patients.

What Is: Mitochondrion

Evolutionary Singularities and the Eukaryotic Dawn

The mitochondrion represents a biological singularity, a discrete evolutionary event that fundamentally partitioned life on Earth into two distinct energetic stratums: the prokaryotic and the eukaryotic. While colloquially reduced to the moniker of "cellular powerhouse," the mitochondrion is, in functional reality, a highly integrated endosymbiont that serves as the master regulator of eukaryotic physiology. It is the nexus of cellular respiration, the arbiter of programmed cell death, a buffer for intracellular calcium, and a hub for biosynthetic pathways ranging from heme synthesis to steroidogenesis. To comprehend the complexity of multicellular life, one must first dissect the intricate molecular sociology of this organelle.   

The origin of the mitochondrion is the subject of intense phylogenomic reconstruction. The prevailing consensus, the endosymbiotic theory, posits that the mitochondrion descends from a free-living bacterial ancestor—specifically a lineage within the Alphaproteobacteria—that entered into a symbiotic relationship with a host archaeal cell approximately 1.5 to 2 billion years ago. This was not a trivial acquisition but a transformative merger. The energetic capacity afforded by the internalization of a bioenergetic specialist allowed the host cell to escape the surface-area-to-volume constraints that limit prokaryotic genome size, facilitating the expansion of the nuclear genome and the development of complex intracellular compartmentalization. 

Rice engineers show lab grown diamond films can stop costly mineral buildup in pipes

Pulickel Ajayan and Xiang Zhang
Photo Credit: Jeff Fitlow/Rice University

In industrial pipes, mineral deposits build up the way limescale collects inside a kettle ⎯ only on a far larger and more expensive scale. Mineral scaling is a major issue in water and energy systems, where it slows flow, strains equipment and drives up costs.

A new study by Rice University engineers shows that lab-grown diamond coatings could resolve the issue, providing an alternative to chemical additives and mechanical cleaning, both of which offer only temporary relief and carry environmental or operational downsides.

“Because of these limitations, there is growing interest in materials that can naturally resist scale formation without constant intervention,” said Xiang Zhang, assistant research professor of materials science and nanoengineering and a first author on the study alongside Rice postdoctoral researcher Yifan Zhu. “Our work addresses this urgent need by identifying a coating material that can ‘stay clean’ on its own.”

Forensic Science: In-Depth Description

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Forensic Science is the rigorous application of scientific principles and methods to matters of criminal and civil law is the rigorous application of scientific principles and methods to matters of criminal and civil law. It serves as the critical intersection between the scientific community and the justice system, tasked with the collection, preservation, and analysis of physical evidence to reconstruct events, identify perpetrators or victims, and establish objective facts for legal proceedings.

Genetic Engineering: Changing the Number of Chromosomes in Plants Using Molecular Scissors

For the first time, KIT researchers managed to reduce the number of chromosomes in a plant by fusing two chromosomes.
Illustration Credit: Michelle Rönspies – KIT

Higher yields, greater resilience to climatic changes or diseases – the demands on crop plants are constantly growing. To address these challenges, researchers at Karlsruhe Institute of Technology (KIT) are developing new methods in genetic engineering. In cooperation with other German and Czech researchers, they succeeded for the first time in leveraging the CRISPR/Cas molecular scissors for changing the number of chromosomes in the Arabidopsis thaliana model organism in a targeted way – without any adverse effects on plant growth. This discovery opens up new perspectives for plant breeding and agriculture.  

Evolutionary Biology: In-Depth Description

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Evolutionary Biology is the sub-discipline of biology that studies the evolutionary processes that produced the diversity of life on Earth, starting from a single common ancestor. These processes include natural selection, common descent, and speciation. It serves as the unifying theory of the biological sciences, providing a framework that explains the unity and diversity of organisms by investigating the changes in the heritable traits of biological populations over successive generations.

An electric discovery: Pigeons detect magnetic fields through their inner ear

Photo Credit: Nancy Hughes

In 1882, the French Naturalist Camille Viguier was amongst the first to propose the existence of a magnetic sense. His speculation proved correct; many animals – from bats to migratory birds and sea turtles use the Earth’s magnetic field to navigate. Yet despite decades of research, scientists still know surprisingly little about the magnetic sense. How do animals detect magnetic fields? Which brain circuits process the information? And where in the body is this sensory system located? 

Viguier audaciously proposed that magnetic sensing might occur in the inner ear relying on the generation of small electric currents. This idea was ignored and then forgotten; a historical musing lost with the passage of time. Now more than a century later it has been resurrected by neuroscientists at LMU in a paper published in Science. A team led by Professor David Keays took an unbiased approach to studying pigeon brains exposed to magnetic fields. 

New stem cell medium creates contracting canine heart muscle cells

Canine iPS cells cultured in a newly developed medium successfully differentiated into functional cardiomyocytes
Image Credit: Osaka Metropolitan University

Scientists obtained stem cells expressing cardiac muscle-specific genes and proteins. The cells displayed regular rhythmic contractions similar to a heart, confirming that they were functional cardiomyocyte cells.

In research, induced pluripotent stem (iPS) cells are derived from skin, urine, or blood samples and developed into other cells, like heart tissue, that researchers want to study. Because of the similarities between certain dog and human diseases, canine iPS cells have potential uses in regenerative medicine and drug discovery. 

How the cheese-noodle principle could help counter Alzheimer's

Jinghui Luo is a researcher at the Center for Life Sciences at the Paul Scherrer Institute PSI. He studies accumulations of so-called amyloid proteins, which lead to nerve damage in the brain. His research aims to help mitigate neurodegenerative diseases such as Alzheimer's and Parkinson's in the long term.  Photo Credit: © Paul Scherrer Institute PSI/Markus Fischer

Researchers at the Paul Scherrer Institute PSI have clarified how spermine – a small molecule that regulates many processes in the body's cells – can guard against diseases such as Alzheimer's and Parkinson's: it renders certain proteins harmless by acting a bit like cheese on noodles, making them clump together. This discovery could help combat such diseases. The study has now been published in the journal Nature Communications.

Our life expectancy keeps rising – and as it does, age-related illnesses, including neurodegenerative diseases such as Alzheimer's and Parkinson's, become increasingly common. These diseases are caused by accumulations in the brain of harmful protein structures consisting of incorrectly folded amyloid proteins. Their shape is reminiscent of fibers or spaghetti. To date, there is no effective therapy to prevent or eliminate such accumulations. 

Subverting Plasmids To Combat Antibiotic Resistance

Two types of plasmids, colored red and blue, form intricate patterns as they compete for dominance in a bacterial colony.
Image Credit: Fernando Rossine

Researchers in the Blavatnik Institute at Harvard Medical School have just opened a new window into understanding the development of antibiotic resistance in bacteria.

The work not only reveals principles of evolutionary biology but also suggests a new strategy to combat the antibiotic resistance crisis, which kills an estimated 1.3 million people per year worldwide.

Members of the labs of Michael Baym, associate professor of biomedical informatics, and Johan Paulsson, professor of systems biology, devised a way to track the evolution and spread of antibiotic resistance in individual bacteria by measuring competition among plasmids.

Environmental Science: In-Depth Description

Photo Credit: Esa Kaifa

Environmental science is an interdisciplinary academic field that integrates physical, biological, and information sciences to study the environment and identify solutions to environmental problems. By combining disciplines such as ecology, biology, physics, chemistry, plant science, zoology, mineralogy, oceanography, limnology, soil science, geology and physical geography, and atmospheric science, it seeks to understand the complex interactions between the natural world and human societies.

The primary goal of environmental science is to learn how the natural world works, to understand how we interact with the environment, and to determine how we can live sustainably without degrading our life-support system.