In a landmark achievement for genetic medicine, an infant named KJ Muldoon has become the first person to receive a customized CRISPR-based gene-editing therapy to treat carbamoyl phosphate synthetase 1 (CPS1) deficiency—a rare and often fatal metabolic disorder. This pioneering treatment, developed by researchers at the Children's Hospital of Philadelphia and the University of Pennsylvania, offers new hope for patients with rare genetic diseases.

Guillain-Barré Syndrome (GBS) is a neurological condition where the body’s immune system mistakenly targets its own peripheral nerves,...

Living with a rare disease (RD) often involves navigating a complex and lengthy healthcare process, especially when it comes to receiving...

Microtia, a congenital condition characterized by an underdeveloped external ear (pinna), often presents significant challenges,...