A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable ...

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...

When you look at clouds, tree bark, or the front of a car, do you sometimes see a face staring back at you? That's "face ...

Uncover the potential of repurposing medications to revolutionize the treatment landscape for orphan diseases and improve ...

The former pub landlady from Grenoside, Sheffield, was told she had two to four years to live when she was diagnosed with a ...

Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical ...

Although the Higginbotham children had surgery for Chiari malformation, they're still coping with the "lasting effects." ...

New Democrats reintroduce bill to create a formal plan for helping people get early diagnosis, screening and treatment for ...

Explore recent changes in rare disease treatments regulation. Discover how these reforms aim to enhance patient access in the UK ...

Ashlee and Paul Higginbotham's baby wouldn't stop crying. An MRI found an unusual condition. Soon, they found three of their ...

Hereditary fructose intolerance is markedly different to a food allergy. A food allergy involves the immune system reacting to a food – for example, cow's milk protein – as if it's harmful to the body ...

Earlier this month, Augie Cowan announced that the Caitlin Manor Haunted House had been closed down by the city of San ...