Categoría: Noticias

Researchers have uncovered a fundamental rule that governs how genes are physically arranged inside the cell nucleus, and how disruptions to that organization can contribute to human disease.

Differences in people’s genes can affect how they respond to medications, including how well a drug works and the chances of side effects. About 1 in 10 of prescriptions given to patients outside the hospital don’t work as well as they should because o…

When we think about genetic inheritance, we usually leap to DNA, the four-letter code containing the instructions for building a living organism. Scientists know that DNA encodes everything from hair and eye color to a person’s likelihood of developing…

Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny child suffers seizures and breathing problems.

A largely overlooked structure inside our cells may play a crucial role in how the brain forms, offering new insight into developmental disorders and potential therapies.

Short QT syndrome is a genetic disease that leads to sudden cardiac death at a young age. Mutations in the SLC4A3 gene, which regulates bicarbonate-chloride exchange, were recently described as a potential cause. An international research team includin…

A new study led by NYU Langone Health researchers has found that cancer cells are better able to resist treatments when they have an abnormal number of chromosomes, the DNA strands wound up in bundles that control which genetic instructions are followe…

Hundreds of thousands of people diagnosed with cancer are still alive today but were never genetically tested, either because testing was not available or was not routinely offered at the time of their diagnosis. These patients are just as likely as th…

A major international study led by Flinders University has identified a genetic contributor to juvenile glaucoma. Published today in the journal JAMA Ophthalmology, the study marks another important step toward treating multiple forms of glaucoma with …

Researchers at the Johns Hopkins Kimmel Cancer Center and the Telomere Clinic at Johns Hopkins have identified a genetic syndrome in which unusually long telomeres—the protective caps at the ends of chromosomes—allow immune cells to remain biologically…