Researchers say a new AI system can identify disease-causing mutations and explain their biological effects, potentially ...

This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via AP) Emily ...

Scientists now recognize that spontaneous DNA errors, which we acquire in early development all the way until our last breath ...

New research suggests that autoimmune diseases may be driven by DNA mutations in immune cells that remove the natural brakes ...

A new Nature study suggests DNA mutations in immune cells may drive autoimmune diseases by removing immune system brakes, ...

A gene known as CTNNB1 encodes for a crucial protein called β-catenin, which has an important role in controlling tissue repair and cell growth. If this gene and its protein are dysfunctional, it can ...

There are some genes that can promote cancer; they are sometimes called oncogenes, and in tumor cells, mutations are often found in these genes. When they are functioning normally, oncogenes are often ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

Investigators led by Northwestern Medicine scientists have identified mutations in a gene coding for a key ion channel in the ...

A surprising discovery from high-altitude animals like yaks and Tibetan antelopes could reshape how we treat nerve damage in humans. Scientists found that a genetic mutation helping these animals ...

A man from Norway has likely been cured of HIV after receiving a stem cell transplant from his brother, who has two copies of ...