Congenital muscle weakness: Muscles fail to regenerate

After a muscle injury, muscle stem cells (green) secrete laminin-α2 (magenta) into their surroundings to support their proliferation.
Image Credit: Timothy McGowan, Biozentrum, University of Basel

For more than two decades, researchers at the University of Basel have been investigating a severe form of muscular dystrophy in which muscles progressively degenerate. The research team has now discovered that the muscles’ ability to regenerate is also impaired. Future therapies should therefore aim not only to strengthen muscles but also to promote their regeneration. 

Roughly eight in every million children are born with a particularly severe form of muscle weakness known as LAMA2-related muscular dystrophy. In Switzerland, 18 cases are currently known. This rare hereditary disease is still incurable. The muscles of affected children gradually become weaker, including the respiratory musculature. In many cases, children do not reach adulthood. 

Research on chickens can help endangered species

The difference between a wild and a domesticated variety within a species is often greater than the difference between different species.
Photo Credit: Charlotte Perhammar

LiU researchers are mapping the genetic differences between the domestic chicken and its wild relative the junglefowl. They will now try to find out whether it is possible to use genetic engineering to “undomesticated” domesticated chickens. This could be a tool for conserving endangered species – and perhaps recreating extinct animals. 

Imagine a world without a dog – often called a man’s best friend. A world also without cows, pigs or sheep. If our ancestors had not domesticated many animals and plants a few thousand years ago, there would be no fields of grain, rapeseed or cotton. All animals would be wild. Humans would hunt, fish, and gather plants in nature to put food on the table. In short, virtually every aspect of our lives would be radically affected if the phenomenon of domestication were to be deleted from the history of the Earth. 

Genetics: In-Depth Description

Image Credit: Scientific Frontline / stock image

Genetics is the branch of biology concerned with the study of genes, genetic variation, and heredity in organisms. It seeks to understand the molecular mechanisms by which traits are passed from parents to offspring, how the genetic code directs biological functions, and how variations in this code drive evolution and disease. At its core, genetics is the study of biological information: how it is stored, copied, translated, and mutated.

New clues to why some animals live longer

Sika Zheng
Photo Credit: Courtesy of University of California, Riverside

A collaborative study by scientists at the University of California, Riverside, and University of Southern California reports on how a process known as alternative splicing, often described as “editing” the genetic recipe, may help explain why some mammals live far longer than others.

Published in Nature Communications, the study, which compared alternative RNA processing in 26 mammal species with maximum lifespans ranging from 2.2 to 37 years (>16-fold differences), found that changes in how genes are spliced, more than just how active they are, play a key role in determining maximum lifespan.

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.

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.  

The world’s oldest RNA extracted from woolly mammoth

“Such studies could fundamentally reshape our understanding of extinct megafauna as well as other species, revealing the many hidden layers of biology that have remained frozen in time until now”, says postdoc at the University of Caopenhagen, Emilio Mármol.
Image Credit: Scientific Frontline / stock image

Scientists have taken an important step closer to understanding the mythical mammoths that roamed the Earth thousands of years ago. 

For the first time ever, a research team has succeeded in isolating and sequencing RNA molecules from woolly mammoths dating back to the Ice Age. These RNA sequences are the oldest ever recovered and come from mammoth tissue preserved in the Siberian permafrost for nearly 40,000 years. The study, published in the journal Cell, shows that not only DNA and proteins, but also RNA, can be preserved for very long periods of time, and provide new insights into the biology of species that have long since become extinct. 

Oxford scientists capture genome’s structure in unprecedented detail

Detailed map of the genome one pixel per nucleotide
Image Credit: Radcliffe Department of Medicine

Scientists from Oxford's Radcliffe Department of Medicine have achieved the most detailed view yet of how DNA folds and functions inside living cells, revealing the physical structures that control when and how genes are switched on.

Using a new technique called MCC ultra, the team mapped the human genome down to a single base pair, unlocking how genes are controlled, or, how the body decides which genes to turn on or off at the right time, in the right cells. This breakthrough gives scientists a powerful new way to understand how genetic differences lead to disease and opens up fresh routes for drug discovery.

‘For the first time, we can see how the genome’s control switches are physically arranged inside cells, said Professor James Davies, lead author of the study.

‘This changes our understanding of how genes work and how things go wrong in disease. We can now see how changes in the intricate structure of DNA leads to conditions like heart disease, autoimmune disorders and cancer.’

New Genetic Cause of Microcephaly Identified

Huu Phuc Nguyen, Pauline Ulmke, and Tran Tuoc (from left) contributed significantly to the work. 
Photo Credit: © RUB, Marquard

Microcephaly is a congenital malformation that leads to a significantly reduced brain size and is often accompanied by developmental delay. An international research team led by Dr. Tran Tuoc from the Department of Human Genetics at Ruhr University Bochum, Germany, has discovered a previously unknown genetic cause for this condition. Mutations in the EXOSC10 gene – a central component of the RNA degradation complex (“exosome”) – cause primary microcephaly. The work was published in the journal BRAIN. 

Precise balance of stem cells

During human brain development, neural stem cells must balance self-renewal and differentiation to build the cerebral cortex – the brain’s outer layer responsible for cognition and perception. If this balance is disturbed, malformations occur. “Recent advances in genome sequencing and genetic engineering are transforming our understanding of neurodevelopmental disorders”, Tuoc Tran says.

Did Lead Limit Brain and Language Development in Neanderthals and Other Extinct Hominids?

UC San Diego researchers have found high levels of lead in the teeth of both Neanderthals (left) and modern humans (right). However, a gene mutation may have protected modern human brains, allowing language to flourish.
Photo Credit: Kyle Dykes/UC San Diego Health Sciences

Ancient human relatives were exposed to lead up to two million years ago, according to a new study. However, a gene mutation may have protected modern human brains, allowing language to flourish.

What set the modern human brain apart from our now extinct relatives like Neanderthals? A new study by University of California San Diego School of Medicine and an international team of researchers reveals that ancient hominids — including early humans and great apes — were exposed to lead earlier than previously thought, up to two million years before modern humans began mining the metal. This exposure may have shaped the evolution of hominid brains, limiting language and social development in all but modern humans due to a protective genetic variant that only we carry. The study was published in Science Advances.

The researchers analyzed fossilized teeth from 51 hominids across Africa, Asia and Europe, including modern and archaic humans such as Neanderthals, ancient human ancestors like Australopithecus africanus, and extinct great apes such as Gigantopithecus blacki.

Researchers uncover possible new treatment to target a devastating childhood brain cancer

Professor Peter Lewis
Photo Credit: Courtesy of University of Wisconsin–Madison

Using fruit flies, University of Wisconsin–Madison researchers have developed a new model for investigating the genetic drivers of a rare but aggressive brain tumor in children. The work has already identified potential treatment targets for the deadly cancer that has previously had few therapeutic options.

“Right now, these tumors are incurable, and the standard of care hasn’t changed for 30 years,” says Peter Lewis, a professor in the Department of Biomolecular Chemistry.

The cancer is called pediatric diffuse midline glioma. As its name suggests, the malignancy arises along the midline of the brain or spinal cord and infiltrates surrounding tissue in a way that makes it impossible to remove with surgery. Instead, typical treatment revolves around radiation therapy, and that extends a patient’s life by just months or at most a few years.

Professor Peter Lewis: “What we found might extend well beyond these very rare childhood tumors into more common ones.”

The limited treatment options have driven researchers to more closely examine the genetic mutations that cause the cancer to develop in the first place, with an eye on finding ways to disrupt that process. 

In the case of diffuse midline glioma, previous research identified mutations in certain DNA-packaging proteins as a likely culprit.

Deciphering the mechanisms of genome size evolution

The sequencing of the genomes of a spider from the mainland (Dysdera catalonica, left) and one from the Canary Islands (Dysdera tilosensis, left) opens a new perspective for understanding how genome size evolves in similar species, an enigma that has baffled the scientific community for years.
Photo Credit: Courtesy of University of Barcelona

This study contradicts the more traditional evolutionary view — on island-colonizing species, whose genomes are larger and often have more repetitive elements — and expands the scientific debate on a major puzzle in evolutionary biology: how and why does genome size change during the evolution of living beings?

The study is led by Julio Rozas and Sara Guirao, experts from the Faculty of Biology and the Biodiversity Research Institute (IRBio) of the University of Barcelona. The paper, whose first author is Vadim Pisarenco (UB-IRBio), also involves teams from the University of La Laguna, the Spanish National Research Council (CSIC) and the University of Neuchâtel (Switzerland).

This research offers a surprising perspective to explain a phenomenon that has puzzled scientists for decades: the size of the genome — the total number of DNA base pairs encoding an organism’s genetic information — varies enormously between species, even those with similar biological complexity.

Study reveals genetic link between childhood brain disorder and Parkinson's disease in adults

Image Credit: Dmitriy Kievskiy

Errors in a gene known to cause a serious neurodevelopmental condition in infants are also linked to the development of Parkinson’s disease in adolescence and adulthood, according to new research

The study, published in the Annals of Neurology, looked at a gene called EPG5. Errors in this gene are already known to cause Vici syndrome – a rare and severe inherited neurodevelopmental condition that presents early in life and affects multiple organ systems. Now researchers at King’s College London, University College London (UCL), the University of Cologne and the Max Planck Institute for Biology of Ageing have found that errors in the same gene are linked to changes in nerve cells that lead to more common age-related conditions like Parkinson’s disease and dementia.

Cholesterol-lowering drugs could reduce the risk of dementia

Low cholesterol can reduce the risk of dementia, a new University of Bristol-led study with more than a million participants has shown.

The research, led by Dr Liv Tybjærg Nordestgaard while at the University of Bristol and the Department of Clinical Biochemistry at Copenhagen University Hospital – Herlev and Gentofte, found that people with certain genetic variants that naturally lower cholesterol have a lower risk of developing dementia.

The study, which is based on data from over a million people in Denmark, England, and Finland, has been published in the journal Alzheimer's & Dementia: The Journal of the Alzheimer's Association. 

Some people are born with genetic variants that naturally affect the same proteins targeted by cholesterol-lowering drugs, such as statins and ezetimibe. To test the effect of cholesterol-lowering medication on the risk of dementia, the researchers used a method called Mendelian Randomization — this genetic analysis technique allowed them to mimic the effects of these drugs to investigate how they influence the risk of dementia, while minimizing the influence of confounding factors like weight, diet, and other lifestyle habits.

Researchers discover of a new type of diabetes in babies

Photo Credit: Rene Terp

Advanced DNA sequencing technologies and a new model of stem cell research has enabled an international team to discover a new type of diabetes in babies.

The University of Exeter Medical School worked with Université Libre de Bruxelles (ULB) in Belgium and other partners to establish that mutations in the TMEM167A gene are responsible for a rare form of neonatal diabetes.

Some babies develop diabetes before the age of six months. In over 85 per cent of cases this is due to genetic mutation in their DNA. Research led by the University of Exeter found that in six children with additional neurological disorders such as epilepsy and microcephaly identified alterations in a single gene: TMEM167A.

To understand its role, ULB researcher Professor Miriam Cnop’s team used stem cells differentiated into pancreatic beta cells and gene-editing techniques (CRISPR). They found that when the TMEM167A gene is altered, insulin-producing cells can no longer fulfill their role. They then activate stress mechanisms that lead to their death.

Breast Cancer Polygenic Risk Score Associated with Outcomes after In Situ Breast Disease

Photo Credit: National Cancer Institute

Studying a person’s genetic makeup can predict if they will go on to develop invasive breast cancer after abnormal cells have been found in their breast tissue.

For the first time, researchers at King’s College London have shown the connection between a person’s genetic risk score and their risk of developing the disease after irregular cells have been detected.

The research, published in Cancer Epidemiology, Biomarkers & Prevention and funded by Breast Cancer Now, included over 2,000 women in the UK who had been tested for 313 genetic changes, known as a genetic risk score.

These patients had already been diagnosed with either ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS) – the most common types of abnormal cells found in breast tissue.

A genetic risk score estimates a person's inherited likelihood of developing a disease or trait by combining the influence of multiple common genetic variants.

Hidden genetic risk could delay diabetes diagnosis for Black and Asian men

 

Photo Credit: Barbara Olsen

A common but often undiagnosed genetic condition may be causing delays in type 2 diabetes diagnoses and increasing the risk of serious complications for thousands of Black and South Asian men in the UK – and potentially millions worldwide.

The new study is conducted by the University of Exeter, in collaboration with Queen Mary University of London (QMUL) and funded through a Wellcome Discovery Award. It has found around one in seven Black and one in 63 South Asian men in the UK carry a genetic variant known as G6PD deficiency. Men with G6PD deficiency are, on average, diagnosed with type 2 diabetes four years later than those without the gene variant. But despite this, fewer than one in 50 have been diagnosed with the condition

G6PD deficiency does not cause diabetes, but it makes the widely used HbA1c blood test – which diagnoses and monitors diabetes – appear artificially low. This can mislead doctors and patients, resulting in delayed diabetes diagnosis and treatment.

Early changes during brain development may hold the key to autism and schizophrenia

Photo Credit: Michal Jarmoluk

Researchers at the University of Exeter have created a detailed temporal map of chemical changes to DNA through development and aging of the human brain, offering new insights into how conditions such as autism and schizophrenia may arise.

The team studied epigenetic changes – chemical tags on our DNA that control how genes are switched on or off. These changes are crucial in regulating the expression of genes, guiding brain cells to develop and specialize correctly.

One important mechanism, called DNA methylation, was examined in nearly 1,000 donated human brains, spanning life from just six weeks after conception through to 108 years of age. The researchers focused on the cortex, a region of the brain involved in high-level functions such as thought, memory, perception, and behavior. Correct development of the cortex during early life is important to support healthy brain function after birth.

Decoding the selfish gene, from evolutionary cheaters to disease control

Malaysian stalk-eyed fly (Teleopsis dalmanni).
Photo Credit: Paul Richards

New research is shining a light on one of genetics’ enduring puzzles - how the workings of the so-called “selfish gene” could be harnessed to control harmful insect populations.

Scientists from the University of Sheffield have uncovered how to potentially control harmful insect populations by studying a "selfish gene" that manipulates inheritance

The new research focuses on meiotic drive, a process where a selfish gene gives itself a better chance of being passed on to the next generation, disrupting the normal 50/50 inheritance pattern

By studying the Malaysian stalk-eyed fly, researchers discovered that a selfish gene can damage rival sperm carrying a Y chromosome, leading to a population with far more females than males

Understanding this genetic mechanism could provide a new way to control insects that spread disease and cause food shortages by causing their populations to become unsustainably female-biased

Women of Science: A Legacy of Achievement

Future generations to pursue their passions and break down barriers in the pursuit of knowledge.
Image Credit: Scientific Frontline stock image

Throughout history, women have made groundbreaking contributions to science, despite facing significant societal barriers and a lack of recognition. Their relentless pursuit of knowledge and innovation has shaped our understanding of the world and paved the way for future generations of scientists. This article celebrates the achievements of some of these remarkable women, highlighting their struggles and the impact of their work.

The women featured in this article, along with countless others throughout history, have made invaluable contributions to the advancement of science. Their achievements, often accomplished in the face of adversity and societal barriers, have shaped our understanding of the world and paved the way for future generations of scientists. These women demonstrate the power of perseverance, the importance of challenging established norms, and the profound impact that individual dedication can have on scientific progress. By recognizing and celebrating their legacies, we not only honor their contributions but also inspire future generations to pursue their passions and break down barriers in the pursuit of knowledge.