A Carlsbad family is sharing their son’s story after the 5-year-old was diagnosed with a rare genetic disorder and began a ...

Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health ...

The first gene-regulating treatment for epilepsy achieves promising results in an initial trial with 81 patients ...

This Ice Age pair of hunter-gatherers were both shorter than average for their population – one of them markedly so – and now we finally know why. A team of researchers from Europe re-examined the ...

KJ Muldoon came into the world with a genetic time bomb ticking inside him. Doctors at the Children’s Hospital of Philadelphia had barely finished running newborn screens when the diagnosis landed: ...

A sweeping new peer-reviewed study published in Genomic Psychiatry has introduced a concept that could reshape how psychiatrists and geneticists think about mental illness: genetic specificity.

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

Spain has begun using a new genetic ALS therapy that targets the SOD1 mutation and may slow nerve damage in patients with this rare condition.

A mother-of-four who had two major eye surgeries to fix her vision has told of how she then learned she would go blind due to an incurable genetic disease.Sabrina Fink, 49, said there were warning ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

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 ...