A long-established drug with a diverse medical history is drawing new attention for its potential role in treating an ...

An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according ...

We found that it is critical for brain development and plays a protective role in neurodegenerative diseases like Alzheimer's disease. Additionally, it was found that defects in the ADNP gene cause ...

On Thursday, January 8, Quick and CNBC launched their new initiative, CNBC Cares, to help raise awareness for rare diseases and the families affected by them across the country. In a prerecorded ...

A local two-month-old baby has a road full of unknowns ahead of her after being diagnosed with a rare genetic condition. Kira ...

Audrey Tyrell, 13, was diagnosed with a rare genetic disorder called Usher syndrome at age 10. The teen has created a bucket ...

Actor Colin Farrell has opened up about the difficult decision to move his son James, who has Angelman syndrome, into a long-term care facility. In an interview this week the actor, 48, revealed he ...

Affected populations: This genetic, multisystem disorder affects an estimated 1 in 30,000 to 1 in 10,000 people worldwide. Most cases of the syndrome occur sporadically, meaning the genetic changes ...

WASHINGTON — Steven W. Bailey, a character actor known for appearances on “Grey’s Anatomy,” “Modern Family” and numerous ...

"Grey’s Anatomy" actor Steven W. Bailey spoke with "Good Morning America" about a rare genetic condition he is battling.