Lauren MacLaren said her son 'Mack' was diagnosed in the womb with the rare genetic disorder Male-Specific Lethal 2 (MSL2).

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

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

The human immune system is finely tuned to detect and destroy viral threats. But this same defense system can misfire. When ...

For decades, the dream of fixing harmful mutations in mitochondrial DNA felt out of reach. Scientists have long known these mutations cause serious diseases that pass down only through mothers. They ...

In 1993, 25 years after her family launched their foundation, the group of scientists they supported finally identified the ...

A mother has launched a desperate appeal for stem cell donors to save her two young sons, who are battling a rare and life-threatening genetic disorder. Marcela Zberea hopes a transplant will offer ...

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...

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

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

For years, the story of recent human evolution looked relatively quiet. Scientists studying ancient human DNA had found only ...

Despite widespread misconceptions, eating disorders aren't a choice, they're serious, potentially life-threatening conditions. While social and environmental factors do influence someone's risk of ...