Instead of approving Stealth BioTherapeutics' drug for Barth syndrome, the FDA withheld its endorsement, but decided it may ...

In today's Pharmalittle roundup, we're reading about HHS canceling a Moderna contract, FDA rejecting a rare disease drug, and ...

As the future of rare disease research at Cincinnati Children's is threatened, parents of 13-year-old Charlie Evans plead for ...

On Saturday, May 24, the 78th World Health Assembly (WHA) voted to adopt a resolution to establish a global framework to ...

There'd be few things more terrifying as a parent than finding out your child has a disease, particularly if it's one where there's no known cure. That was the situation for a couple from Queensland, ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering ...

A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research ...

Alnylam Pharmaceuticals has put its dancing shoes on to raise awareness of the experience of living with acute hepatic ...

A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at ...

U.S. President Donald Trump's trade negotiators are pushing the EU to make unilateral tariff reductions on U.S. goods, saying ...

Genentech’s short film draws on the experiences of multiple families caring for children with hemophilia A, seeking to ...

Corina and Destiny lost their first child, Ahi o Te Aroha, at six months old. Although genetic testing identified a variant ...