Categoría: Noticias

New research tracks how cells prepare gene regulatory decisions that will define their fate during the earliest stages of human development. The study reconstructs a timeline of chromosome folding that brings remote DNA regulatory regions into physical…

An 8-month-old infant with severe genetic epilepsy has become the first patient in the world to receive an experimental gene replacement therapy designed to restore the function of the WWOX gene directly in the brain. The treatment, administered at Sch…

Cocaine produces strong euphoric effects, but many users experience unpleasant effects after the rewarding aspects of the drug wear off, which serve as a «brake» for continued use. Research suggests that those who go on to misuse cocaine may not have a…

A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which results in severe lung disease. Researchers at Baylor College of Medicine, Texas Children’s Hospi…

Damage to DNA in cancer cells can lead to pieces breaking off chromosomes and floating away, like icebergs cracking off a glacier. Just as icebergs are a threat to ships and their crew, these scattered bits of DNA loom large for physicians and cancer p…

Rare genetic variants known to cause cardiomyopathy, an inherited cause of a weak heart, can increase the risk of patients developing heart failure. However, new research from Mass General Brigham Heart and Vascular Institute and the Broad Institute of…

Black women experience disproportionately elevated risks of developing and dying from early-onset breast cancer. New research published in the journal Cancer reveals the genes that are most likely to be mutated to contribute to these increased risks.

Many repetitive regions of the genome have been considered «junk DNA» because the available technologies did not allow them to be studied at sufficient resolution. This is the case for the SST1/NBL2 macrosatellites, considered irrelevant and, until now…

With dementia cases expected to nearly triple worldwide by 2050, researchers are increasingly focused on identifying ways to prevent or delay the disease. While lifestyle and health-related factors, such as blood pressure control and physical activity,…

The human heart must constantly adapt to changing demands—a task that requires tightly coordinated molecular shuffling in heart cells. One of the key regulators of this process is RBM20, a protein that controls an editing step called «alternative splic…