As Rare Disease day 2020 approaches, we take a look at the biggest challenges facing orphan drug developers and ask whether the future is bright or bleak for these difficult conditions.

To mark upcoming Rare Disease Day, pharmaphorum asked a panel of experts to give their thoughts on the opportunities and challenges facing developers of rare disease therapies in 2024. The panel ...

FA is a progressive neuromuscular disease that causes loss of coordination and mobility. My parents got my test results the ...

She feared for her life every day for three years. “It was extremely depressing,” said Suki. “Everyone wants to see their ...

Archie Williams, nine, struggles to breathe and can't walk very far - but you wouldn't know anything was wrong by looking at ...

Scurvy, a now-rare disease best associated with sailors' lack of fresh fruit and vegetables on long sea voyages, is a ...

Doctors at Sir Charles Gairdner Hospital in Perth have made a recent discovery of a rare disease known as scurvy after a man in his early 50s presented with symptoms.

Scurvy, a disease thought to be historical, is reappearing in developed countries. Learn about its symptoms, causes, and ...

It began with a burning pain in her right eye. At first, Elisabeth Cohen thought she’d gotten something in it. But the next ...

DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screening does, ...

Researchers say they have identified a gene pathway involving the mineral zinc in mice that may someday point the way to using zinc-based supplements to directly help people with a rare disorder ...

DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screeni ...