Genetics

Reliable and gentler control of cellular activity with light: Researchers at the Cluster of Excellence Multiscale Bioimaging (MBExC) and the Else Kröner Fresenius Center for Optogenetic Therapies (EKFZ OT) of the University Medical Center Göttingen (UMG) have developed a light-sensitive protein that can restore vision and hearing and regulate heart rhythm.

A new online tool developed by researchers at the University of Louisville promises to speed up the discovery of treatments for brain and nerve tumors, especially rare ones that have had limited research attention.

A new study published by Cleveland Clinic researchers in Diabetes, Obesity and Metabolism investigating the genetic underpinnings of weight loss response has identified a gene, neurobeachin (NBEA), as a predictor of how individuals respond to GLP-1RAs, the class of medications behind popular treatments like liraglutide and semaglutide.

UC Davis MIND Institute researchers Randi and Paul Hagerman are calling for increased awareness and screening for fragile X-associated conditions. In a new paper published in the New England Journal of Medicine, the husband-and-wife physician-scientists note that the group of genetic conditions is still not widely recognized by health care providers, despite decades of research.

In a newly published article in Nature Genetics, researchers from the University of Chicago have identified tumor aneuploidy—an imbalance in the number of chromosomes—as a powerful biomarker associated with resistance to immunotherapy across cancer types. The study emphasizes how combining immunotherapy with radiation may help overcome the issue of therapy resistance, offering a new framework for predicting treatment response and personalizing cancer therapy.

The human brain is made up of billions of nerve cells (neurons) that communicate with each other in vast, interconnected networks. For the brain to function reliably, there must be a fine balance between two types of signals: Excitatory neurons that pass on information and increase activity, and inhibitory neurons that limit activity and prevent other neurons from becoming too active or firing out of control. This balance between excitation and inhibition is essential for a healthy, stable brain.

By establishing an iron overload-induced hepatic ferroptosis model, scientists from Japan have identified iFerroptosis—an integrated gene signature for ferroptosis. They evaluated the associated genes in both mice and human liver injury systems, validating the potential use of iFerroptosis as a biomarker. By highlighting the role of ferroptosis in liver injuries, this study offers insights into unique therapeutic targets.

Melanin can either protect or worsen hereditary hearing loss depending on genetic context, as reported by researchers from Japan. Using genetically engineered mice lacking the SLC26A4 gene, the researchers found that problems with melanin degradation led to its pathological accumulation in the inner ear, causing chronic inflammation and macrophage activation. These findings could inform new therapeutic strategies to minimize some forms of hereditary hearing loss.

Using gene editing in a preclinical model, researchers at UT Southwestern Medical Center blocked the symptoms of a rare smooth muscle disease before they developed. Their findings, published in Circulation, could eventually lead to gene therapies for this and other genetic diseases affecting smooth muscle cells.

Researchers from Children’s Hospital of Philadelphia (CHOP) have identified a novel gene associated with neurodevelopmental disorders and epilepsy. The study, published in the American Journal of Human Genetics, leveraged large data depositories, state-of-the-art computational techniques and community-based gene matching to identify this new gene, which is a critical early step in improving diagnosis and eventually developing new treatment methods.