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Category: biotech/medical – Page 99

New tool offers single-cell study of specific genetic variants

Scientists have long suspected connections between heredity and disease, dating back to Hippocrates, who observed certain diseases “ran in families.” However, through the years, scientists have kept getting better at finding ways to also understand the source of those genetic links in the human genome.

EMBL scientists and collaborators have now developed a tool that goes beyond current single-cell technology by capturing genomic variations and RNA together in the same cell, increasing precision and scalability compared to previous technologies. Able to determine variations in non-coding regions of the genome, this tool transforms how scientists can study the parts of DNA where variations linked to disease are most likely to occur. This single-cell tool, with its high precision and throughput, represents an important advance in drawing correlations between genetic variants and disease.

“This has been a long-standing problem, as current single-cell methods to study DNA and RNA in the same cell have had limited throughput, lacked sensitivity, and are complicated,” said Dominik Lindenhofer, the lead author on a new paper about SDR-Seq published in Nature Methods and a postdoctoral fellow in EMBL’s Steinmetz Group.

People with ADHD may be more creative because they let their minds wander

New research confirms that ADHD (Attention Deficit Hyperactivity Disorder) can be linked to increased creativity and suggests that this creativity is associated with a greater tendency to let your mind wander. This first study to explain the link between ADHD and creativity is presented at the ECNP Congress in Amsterdam.

Lead researcher Han Fang (from the Radboud University Medical Center, the Netherlands) said, “Previous research pointed to mind-wandering as a possible factor linking ADHD and creativity, but until now no study has directly examined this connection. We conducted two studies, utilizing two different groups of ADHD patients and healthy controls, one from a European group curated by the ECNP, and a second study from a UK group. In total, there were 750 participants. Separately analyzing results from two means that we can have greater confidence in the results.”

The researchers examined the correlations between ADHD characteristics, creativity, and functional impairments and the role of mind-wandering in those links. Both patient groups showed classic ADHD characteristics, such as lack of attention, impulsivity, and the tendency to let one’s mind wander away from the subject in hand. Both studies showed that more ADHD symptoms were correlated with more mind-wandering.

A cGAS-mediated mechanism in naked mole-rats potentiates DNA repair and delays aging

Efficient DNA repair might make possible the longevity of naked mole-rats. However, whether they have distinctive mechanisms to optimize functions of DNA repair suppressors is unclear. We find that naked mole-rat cyclic guanosine monophosphate–adenosine monophosphate synthase (cGAS) lacks the suppressive function of human or mouse homologs in homologous recombination repair through the alteration of four amino acids during evolution. The changes enable cGAS to retain chromatin longer upon DNA damage by weakening TRIM41-mediated ubiquitination and interaction with the segregase P97. Prolonged chromatin binding of cGAS enhanced the interaction between repair factors FANCI and RAD50 to facilitate RAD50 recruitment to damage sites, thereby potentiating homologous recombination repair.

Engineered stem cells yield millions of tumor-fighting natural killer cells at reduced cost

Chinese researchers have developed a novel method to efficiently engineer natural killer (NK) cells for cancer immunotherapy. NK cells are central to early antiviral and anticancer defense—among other immune system roles—making them well-suited for cancer immunotherapy. For example, chimeric antigen receptor (CAR)-NK therapy involves adding a lab-built receptor (a CAR) to an NK cell, enabling it to recognize a specific antigen on a cancer cell and attack it.

However, conventional CAR-NK immunotherapies rely primarily on mature NK cells isolated from , such as peripheral blood or cord blood, which poses multiple challenges, including high heterogeneity, low engineering efficiency, high handling costs, and time-intensive processing.

Now a research team led by Prof. Wang Jinyong from the Institute of Zoology of the Chinese Academy of Sciences has developed a novel method to generate induced (that is, lab-generated) NK (iNK) cells and CAR-engineered iNK (CAR-iNK) cells from CD34+ and (HSPCs) derived from cord blood.

Age-Defying Health Benefits: New Research Unravels Secrets of the “Longevity” Gene

Deleting the S6K1 protein in mice reduces inflammation and extends lifespan by suppressing inflammatory proteins, highlighting a new mechanism in aging and potential treatments for age-related diseases. S6K1 is a protein that plays a role in regulating aging and age-related diseases. Inhibiting t

Sleuthing for cause of deadly kidney disease in farm workers in hot climates

So many men in Chichigalpa, Nicaragua, have died from kidney failure, the town is known as the Island of the Widows. The condition that afflicts them — called chronic kidney disease of unknown origin, or CKDu — is, as its name implies, a mystery. It is a tubulointerstitial kidney disease that affects people everywhere. But researchers don’t know why rates are much higher in low-lying, hot agricultural areas like Chichigalpa, which is surrounded by sugarcane fields.

Shuchi Anand, MD, a Stanford Medicine associate professor of nephrology, has been interested in the disease since it was first described in the 1990s.

“Two-thirds of the people with this disease are men, many in their 30s and 40s,” said Anand, who is the director of the Center for Tubulointerstitial Kidney Disease. “This is the prime age of work and income generation. They are the breadwinners. This disease can devastate families.”

Receptor in cerebellum provides new insights into molecular basis of ataxia

Researchers at Ruhr University Bochum, Germany, identified a receptor that plays a crucial role in stress-induced motor incoordination associated with ataxias. These hereditary motor disorders have long been linked to the neurotransmitter norepinephrine.

The team, led by Dr. Pauline Bohne and Professor Melanie Mark from the Behavioral Neurobiology Working Group in Bochum, has now shown that the α1D norepinephrine receptor in the cerebellum is responsible for the symptoms. The team published these findings in the journal Cellular and Molecular Life Sciences on October 6, 2025.

People with experience recurring episodes of motor incoordination, also known as dystonia. These phases are triggered by various factors, such as physical or , fever, alcohol, or caffeine. The episodes are triggered by the release of norepinephrine in the cerebellum, which is the most important brain region for coordinating movement. Currently, there is no cure for ataxia. Therefore, researchers want to gain a better understanding of the underlying mechanisms to find new treatment approaches.

Blood cancer: Scientists reprogram cancer cell death to trigger immune system

The aim of immunotherapy strategies is to leverage cells in the patient’s own immune system to destroy tumor cells. Using a preclinical model, scientists from the Institut Pasteur and Inserm successfully stimulated an effective anti-tumor immune response by reprogramming the death of malignant B cells. They demonstrated an effective triple-therapy approach for treating forms of blood cancer such as certain lymphomas and leukemias which affect B cells. The study was published on August 15 in the journal Science Advances.

Immunotherapy strategies represent a major breakthrough in . They aim to harness the patient’s so that their own cells can recognize and specifically eliminate . Immune cells can act like sentinels, scanning the body and identifying all residual tumor cells to reduce the risk of relapse. Various novel immunotherapy strategies are emerging, one of which makes use of a cell death mechanism known as necroptosis. Unlike apoptosis, which results in silent cell death, necroptosis releases warning signals that attract and stimulate immune cells so that they can kill any remaining tumor cells.

Scientists from the Dynamics of Immune Responses Unit (a joint Inserm/Institut Pasteur unit) set out to explore the effectiveness of this necroptosis-based immunotherapy strategy on hematological malignancies. They began by observing that necroptosis cannot be easily induced in malignant B cells because of the absence of the MLKL protein.

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