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.

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 ...

Your DNA is constantly moving And this hidden motion may hold the key to diseases like cancer, autism, and developmental ...

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

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

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

Just days after her son was born, Julia Friar learned he had galactosemia, a rare genetic disorder that can be life-threatening. Three years later, the Rock Hill mother is channeling that fear into ...

Human DNA constantly refolds in 3D space, and these looping dynamics regulate gene expression and cell identity.

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

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 ...

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 ...

Researchers at the Weill Institute for Cell and Molecular Biology have uncovered new evidence that two major types of gene-controlling DNA sequences, promoters and enhancers, operate with a shared ...