On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Ty Sperle says he felt "insane shock" after learning he'd been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

I thought the hardest part of this journey would be to find a cure and a treatment for my son,” Andrew Jedlicka told The Post ...

The addition of PacBio to the iHope network will further expand diagnostic access worldwide DAMASCUS, MD, UNITED ...

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders ...

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

Early diagnosis of rare diseases in children can significantly improve treatment outcomes and quality of life. Learn symptoms, challenges, and why early detection is crucial for managing pediatric ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

A new study by researchers at King's College London has split schizophrenia risk into two genetically distinct pathways. One ...

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 ...