Northfield, Ill. (June 25, 2025)—Immunohistochemistry (IHC) can serve as a powerful surrogate for genetic testing in the diagnosis of soft tissue tumors. In a new review from the College of…
Category: genetics – Page 8
A potential replacement for bone marrow sampling: New blood test may detect leukemia risk
What if a blood test could reveal the pace of our aging—and the diseases that may lie ahead? The labs of Profs. Liran Shlush and Amos Tanay at the Weizmann Institute of Science have been conducting in-depth studies into the biology of blood to better understand the aging process and why some people become more susceptible to disease over the years.
Their research teams, made up of physicians, biologists and data scientists, have been tracking changes in the blood-forming stem cells, including the emergence of genetic changes in these cells in about one-third of people over the age of 40. These changes not only increase the risk of blood cancers such as leukemia, but have also been linked to heart disease, diabetes and other age-related conditions.
In a new study published today in Nature Medicine, Shlush and Tanay present findings that may lead to an innovative blood test for detecting a person’s risk of developing leukemia. This test may potentially replace the invasive diagnostic procedure of bone marrow sampling.
Rewriting DNA- from Fiction to Reality
Gene therapy—once something out of science fiction—is now being used in real hospitals to treat real people. Gene editing has become a conversation of not only treating rare diseases but also about access, fairness, and how much control we should have over our biology.
Genes are sections of DNA that act like instruction manuals telling our cells how to build proteins. Proteins perform vital function like energy use, cellular communications, immunity and cell repair. So when people say “We are what our genes make us,” it’s because these gene-coded proteins guide our growth, health, and behaviour.
Sometimes, typos appear in these instruction manuals. They are called genetic mutations. While many mutations are harmless, some affect the protein made from the mutated gene and disrupt how the cell functions. Some cause serious diseases like cystic fibrosis, muscular atrophy or certain cancers.
How changes in the central amygdala drive anxiety
Researchers at the Max Planck Florida Institute for Neuroscience have discovered how loss of a gene strongly associated with autism and macrocephaly (large head size) rewires circuits and alters behavior.
Their findings, published in Frontiers in Cellular Neuroscience, reveal specific circuit changes in the amygdala resulting from PTEN loss in inhibitory neurons, providing new insights into the underlying circuit alterations that contribute to heightened fear and anxiety.
PTEN has emerged as one of the most significant autism risk genes. Variations in this gene are found in a significant proportion of people with autism who also exhibit brain overgrowth, making it a key player in understanding differences in brain function. To investigate the impact of PTEN misregulation, researchers have turned to animal models, where global reduction of PTEN results in altered sociability, repetitive behaviors, and increased anxiety that are often associated with ASD in humans.
AlphaGenome: AI for better understanding the genome
Introducing a new, unifying DNA sequence model that advances regulatory variant-effect prediction and promises to shed new light on genome function — now available via API.
The genome is our cellular instruction manual. It’s the complete set of DNA which guides nearly every part of a living organism, from appearance and function to growth and reproduction. Small variations in a genome’s DNA sequence can alter an organism’s response to its environment or its susceptibility to disease. But deciphering how the genome’s instructions are read at the molecular level — and what happens when a small DNA variation occurs — is still one of biology’s greatest mysteries.
Today, we introduce AlphaGenome, a new artificial intelligence (AI) tool that more comprehensively and accurately predicts how single variants or mutations in human DNA sequences impact a wide range of biological processes regulating genes. This was enabled, among other factors, by technical advances allowing the model to process long DNA sequences and output high-resolution predictions.
Scientists discover unknown organelle inside our cells
The discovery of an unknown organelle inside our cells could open the door to new treatments for devastating inherited diseases.
The organelle, a type of specialized structure, has been dubbed a “hemifusome” by its discoverers at the University of Virginia School of Medicine and the National Institutes of Health. This little organelle has a big job helping our cells sort, recycle and discard important cargo within themselves, the scientists say. The new discovery could help scientists better understand what goes wrong in genetic conditions that disrupt these essential housekeeping functions.
“This is like discovering a new recycling center inside the cell,” said researcher Seham Ebrahim, Ph.D., of UVA’s Department of Molecular Physiology and Biological Physics. “We think the hemifusome helps manage how cells package and process material, and when this goes wrong, it may contribute to diseases that affect many systems in the body.”
Dissecting the cell cycle regulation, DNA damage sensitivity and lifespan effects of caffeine in fission yeast
Caffeine has long been associated with health benefits, including a reduced risk of age-related diseases. However, the specifics of how caffeine interacts with cellular mechanisms and nutrient and stress-responsive gene networks have remained elusive — until now.
In this pioneering research, published in the journal Microbial Cell, scientists used fission yeast, a single-celled organism with surprising similarities to human cells, to delve deeper into caffeine’s impact.
The researchers discovered that caffeine influences aging by engaging an ancient cellular energy system.
A few years ago, the same team found that caffeine prolongs cell life by acting on a growth regulator known as TOR (Target of Rapamycin). TOR is a molecular switch that regulates cell growth based on available food and energy and has been part of the evolutionary landscape for over 500 million years.
However, their latest study unveiled a surprising new finding: caffeine does not directly act on the TOR switch. Instead, it activates AMPK, a cellular fuel gauge that is conserved through evolution in both yeast and humans.
“When your cells are low on energy, AMPK kicks in to help them cope,” senior author Charalampos (Babis) Rallis, a reader in genetics, genomics and fundamental cell biology at Queen Mary University of London, said in a news release. “And our results show that caffeine helps flip that switch.”
Intriguingly, AMPK is also the target of metformin, a common diabetes medication currently under scrutiny for its potential to extend human lifespan when used alongside rapamycin.
New AI Model Diagnoses Brain Tumors With 99% Accuracy, Without Surgery
An MRI scan revealed a brain tumor located in a difficult area, and performing a biopsy would carry significant risks for the patient, who had initially sought medical help due to double vision. Cases like this, discussed by a multidisciplinary team of cancer specialists, led researchers at Charité – Universitätsmedizin Berlin, along with their collaborators, to search for alternative diagnostic methods.
Their solution is an AI model that analyzes specific features in the genetic material of tumors, particularly their epigenetic fingerprint, which can be obtained from sources such as cerebrospinal fluid. As reported in the journal Nature Cancer, the model classifies tumors both rapidly and with high accuracy.
New study reveals genetic link between brain criticality and human cognition
A new study has revealed compelling evidence that brain criticality—a dynamic balance between neural excitation and inhibition—has a strong genetic foundation and is associated with cognitive performance. The research was published on June 23 in the Proceedings of the National Academy of Sciences.
Led by Prof. Liu Ning from the Institute of Biophysics of the Chinese Academy of Sciences (CAS) and Prof. Yu Shan from the Institute of Automation of CAS, the team analyzed resting-state functional MRI (rs-fMRI) data from the Human Connectome Project S1200 release. The dataset included 250 monozygotic twins, 142 dizygotic twins, and 437 unrelated individuals, providing a robust framework for examining the heritability of critical brain dynamics.
The results showed that brain criticality is significantly influenced by genetic factors, with stronger genetic effects observed in primary sensory cortices compared to higher-order association regions. These findings suggest that the capacity of the brain to maintain near-critical dynamics—previously associated with optimal information processing and cognitive flexibility—is, to a substantial degree, inherited.