A pregnant woman was advised that she didn’t need to do further testing for Down syndrome, but the baby girl was born with ...

Experts at Cincinnati Children's have uncovered striking metabolic differences in people with Fanconi anemia (FA), a rare ...

Focused on rare disease therapies, this biotech company reported a significant insider sale amid strong recent share price gains.

A pregnant woman was advised that she didn’t need to do further testing for Down syndrome because there was an extremely rare ...

But while Marley, who was diagnosed at five months, cannot walk or talk and needs help to breathe, Meadow is meeting all the milestones for her age after she was tested at birth and received ...

Wilson's Disease, a rare inherited disorder, causes harmful copper buildup in organs like the liver and brain due to a faulty gene. Early diagnosis an ...

Harlow is defying the odds after receiving groundbreaking gene therapy for a rare brain disorder. Her progress has been called "a miracle" by her family ...