Autor: Clinical genetics

While much is mysterious about the aging process, change over time remains its cornerstone. The biological shifts that accompany aging seemingly occur in many cells in the body. The problem is, we have tens of billions of cells, and what the changes ma…

Diabetes is the most common and serious chronic disease worldwide, characterized by insufficient insulin to maintain proper blood glucose levels. It affects more than 12% of Americans and is the eighth leading cause of death in the U.S., with an estima…

A new worm model developed by Brown University researchers could play a key role in treating a rare genetic disease that causes paralysis in children and worsens with age. Developed in the lab of neuroscientist Anne Hart, a genetically engineered C. el…

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…