An 11-year-old from Rowlett is set to make medical history as the first person in the world to receive treatment for NARS1.

FDA Commissioner Marty Makary’s proposal to roll out a new drug approval pathway is heightening hope for the rare disease ...

With help from his family, school staff and CCRI, 17-year-old Cullen Durand experienced prom night in style, despite ...

At age 2, Cal Carr was already reaching developmental milestones later than expected — and then she started regressing.

A newly discovered compound appears to counter common mutations behind POLG-related diseases, rare conditions that harm ...

Scientists found a compound that appears to counter common mutations behind POLG-related diseases, rare conditions that harm mitochondrial DNA.

Readers Digest also pointed to 'rare names that dovetail with the people residing there', noting: "For example, Sabarin, a ...

An investigational gene therapy has successfully restored immune function in all nine children treated with the rare and life ...

People with diseases caused by rare mutations have fewer options and poorer prospects than other patients despite rapid ...