Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Around 200 children in several countries were conceived with sperm from a single donor who unknowingly carried a rare genetic ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

The analysis revealed that about 2 per cent of sperm from men in their early 30s contained disease-causing mutations. That ...

Even as humpbacks rebound in number, their genomes reveal a loss of genetic diversity and a buildup of harmful mutations left ...

Three start-ups are aiming to create gene-edited babies. Columnist Michael Le Page has no doubt that editing our offspring ...

Immune cells called B cells make antibodies that fight off invading bacteria, viruses and other foreign substances. During ...

This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

At 47, Todd Leach learned he carries a genetic mutation that significantly raised his risk for a rare stomach cancer. He had ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...

Scientists at Mount Sinai have developed a new artificial intelligence system (AI) that can predict not just whether a ...

A single microscopic change in our DNA can permanently alter how the brain is built, locking in developmental problems that ...