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Category: genetics – Page 11

Photoswitch drug shows early signs of restoring light sensitivity in severely damaged retinas in first human trial

Adelaide University researchers have carried out the first in-human trial of a new type of treatment for a leading cause of blindness in working age adults, with promising results.

Retinitis pigmentosa is a genetic condition in which the retinal cells responsible for detecting light don’t work properly, resulting in progressive blindness. Current treatment options for later stages of the disease are limited, and there’s no cure. Now, a new approach to treating the disease is providing fresh hope. Working with researchers from the University of Washington, University of Adelaide experts carried out a small pilot trial to see whether a potential therapy based on a molecule could be safely tolerated by humans.

They found that when the small molecule was injected into the eye, it revived some of the damaged retinal cells, making them sensitive to light again. This happened even after the normal light-sensing cells had been lost.

New tumor map identifies high-risk B-cell lymphoma standard therapy may miss

Researchers led by Universitätsmedizin Frankfurt and Goethe University Frankfurt have identified how particularly aggressive forms of lymphoma can be recognized. By combining genetic and proteomic analyses, the scientists identified biological characteristics of tumors, particularly in high-risk patients for whom standard therapy offers little chance of cure. In the future, such patients could receive alternative, more effective therapies directly. In addition, experimental laboratory research provided initial clues to potential therapeutic targets. The study is published in Cancer Cell.

With more than 150,000 new cases worldwide each year, diffuse large B-cell lymphoma (DLBCL) is the most common aggressive form of lymphoma. Following diagnosis, patients typically receive a standard treatment regimen consisting of a therapeutic antibody and chemotherapy (R-CHOP or Pola-R-CHP), and nearly two-thirds of patients have a good chance of being cured. However, more than one-third of patients experience a relapse after treatment, or their tumors fail to respond to therapy, requiring alternative treatments such as CAR T-cell therapy.

The varying effectiveness of standard therapy is due to the considerable molecular heterogeneity of the disease. Researchers have therefore long been searching for molecular tumor characteristics that would allow them to distinguish among different DLBCL subtypes and treat them more specifically.

Fat cells help repair damaged nerves

Damage to the body’s peripheral nerves can cause pain and movement disorders. Researchers at Leipzig University have recently investigated how damaged nerves can regenerate better. They found that fat tissue strongly supports the Schwann cells needed for repair during the healing process. The results were published in the renowned journal “Cell Metabolism”

Our bodies are transversed by millions of nerve fibres that transmit information. This allows us to do things like control muscles and perceive sensory impressions. Peripheral nerves, like those in our arms and legs, are often damaged by acute injuries, for example, in accidents. As a result, those affected suffer from loss of muscle strength and sensory problems such as numbness. Peripheral nerves do have a strong regenerative potential, but complete recovery of nerve function is still rare for reasons that are not yet fully understood.

When a nerve is crushed or severed, the individual nerve fibres affected by the damage initially die. In principle, they have the ability to grow back and regenerate completely. This depends on the Schwann cells that surround the nerve fibres. These cells do not die after nerve damage, but instead are responsible for coordinating the breakdown and regrowth of nerve fibres in their original areas. Schwann cells therefore play a key role in the repair process. It was previously unknown how these cells cope with the enormous metabolic load associated with the breakdown and rebuilding of nerve tissue. Researchers at the University of Leipzig Medical Center have now discovered that Schwann cells receive crucial support with nerve repair from the fat tissue that surrounds nerves in the body. Using genetically modified mice, they have shown that the chemical messenger leptin plays a key role in this process.

Abstract: 1 Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan

1 Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.

2Division of Cardiovascular and Genetic Research, Center for Molecular Medicine, and.

3Department of Cardiovascular Medicine, Jichi Medical University, Tochigi, Japan.

Are lung cancer tumors hijacking the nervous system?

According to the Cleveland Clinic, a quarter of cancer deaths can be attributed to one source: cachexia. Cachexia is a syndrome that accompanies underlying chronic illness and causes unwanted muscle and fat loss, reducing quality of life and sometimes even limiting treatment options.

A new study led by Thales Papagiannakopoulos, Ph.D., an incoming Salk professor, published in Science, points to a potential new target for preventing cachexia.

The researchers found that a common genetic subset of lung cancer is more prone to cachexia and that tumors from this subtype talk to the brain through sensory neurons in the lung. Silencing these sensory nerves to disrupt the tumor-to-brain connection reduced cachexia, as did blocking the production of the lipid signaling molecule prostaglandin E2 (PGE2) through dietary changes.

Scientists Turned Human Cells into Tiny Biological Computers

The researchers also built in a warning signal. When the cell received a confusing instruction—the biological equivalent of two commands arriving at once—it produced a separate alert instead of continuing as if nothing had happened.

To show how the system might one day be used in medicine, the team programmed cells to secrete IL-15, an immune protein that can help activate cancer-fighting immune cells.

The experiments relied on engineered circuits delivered into cells under controlled lab conditions. The authors note several challenges ahead, including avoiding unwanted RNA interactions, limiting leaky genetic switches, and finding reliable ways to insert larger circuits into cell genomes.

Nanozymes map nanoparticle routes inside live cells without genetic engineering

Nanoparticles are widely used in medicine to deliver drugs, genes or imaging agents to specific parts of the body. Once a nanoparticle reaches a cell, however, many things can happen—it can reach its target, be degraded, interact with proteins that help transport it, or interact with proteins that hinder its transport.

A longstanding problem in designing nanomedicines has been understanding what happens to nanoparticles at the cellular level, but scientists have faced many challenges. For example, optical microscopy imaging techniques provide only a generalized view of nanomedicine localization.

On the other hand, proteomics approaches require cell lysis, which disrupts the natural distribution of proteins around the nanoparticle, making it difficult to understand how nanoparticles are transported within the cell. Another method—proximity labeling—enables in situ investigation of intracellular protein-protein interactions, but it relies on genetically engineered enzyme fusion, which limits its applicability across diverse systems.

Light flips bacterial signaling enzyme between two shapes, unlocking how signals travel

Researchers at the University of Bayreuth and Forschungszentrum Jülich have demonstrated that specific light-sensitive enzymes—so-called sensor histidine kinases (SHKs)—transmit their signal through a light-controlled change in asymmetry. With their new study, the researchers contribute to a better understanding of a central mechanism of bacterial signal processing. This may help develop new tools for biomedicine or biotechnology. The findings are reported in the journal Science Advances.

SHKs are key bacterial signaling proteins that play an important role in many processes, from controlling which genes are active at a given time to enabling the ability to cause disease. Artificially engineered light-sensitive SHKs are also used in optogenetics to precisely control gene activity with light. However, only limited structural information has been available so far for the full protein.

The new study provides important insights into how natural and engineered SHKs transmit signals across multiple protein domains. In the long term, the study may help develop new optogenetic tools that allow biological processes to be precisely controlled using light. This is particularly relevant for applications in biotechnology and biomedicine.

Trisomic rescue via allele-specific multiple chromosome cleavage using CRISPR-Cas9 in trisomy 21 cells

Human trisomy 21, responsible for Down syndrome, is the most prevalent genetic cause of cognitive impairment and remains a key focus for prenatal and preimplantation diagnosis. However, research directed toward eliminating supernumerary chromosomes from trisomic cells is limited. The present study demonstrates that allele-specific multiple chromosome cleavage by clustered regularly interspaced palindromic repeats Cas9 can achieve trisomy rescue by eliminating the target chromosome from human trisomy 21 induced pluripotent stem cells and fibroblasts. Unlike previously reported allele-nonspecific strategies, we have developed a comprehensive allele-specific (AS) Cas9 target sequence extraction method that efficiently removes the target chromosome. The temporary knockdown of DNA damage response genes increases the chromosome loss rate, while chromosomal rescue reversibly restores gene signatures and ameliorates cellular phenotypes. Additionally, this strategy proves effective in differentiated, nondividing cells. We anticipate that an AS approach will lay the groundwork for more sophisticated medical interventions targeting trisomy 21.

Keywords: CRISPR/Cas; Down syndrome; allele specificity; chromosome cut; chromosome loss; human trisomy 21.

© The Author(s) 2025. Published by Oxford University Press on behalf of National Academy of Sciences.

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