Portia Cina is an 18-year-old from New Jersey who wakes up every single morning and spends 45 minutes moisturizing her entire ...

After being told her daughter wouldn’t survive, April Perri is now helping her 16-year-old — who has an ultra-rare genetic ...

A man with a rare condition called ABS, in which the body makes alcohol, opened up about the struggle that landed him two ...

Past the red carpets and the flashing lights of the paparazzi, some celebrities live in a reality more complicated than what is shown. A number of them live with medical conditions only seen in a tiny ...

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...

For more than 30 million people in the United States, living with a rare disease means facing lifelong challenges. Their journey often begins with uncertainty: an average diagnostic odyssey of five or ...

The US Food and Drug Administration on Thursday approved the first gene therapy for inherited hearing loss, a one-time treatment that proved to be life-changing for a small number of children in a ...