orphan diseases

Views & Analysis
Searching for answers in rare epilepsy

Searching for answers in rare epilepsy

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases.

Views & Analysis
Breaking barriers to patient access in rare oncology

Breaking barriers to patient access in rare oncology

As technological advances unlock a more nuanced understanding of disease – and exciting opportunities for personalised medicine – some cancers are now being redefined as rare diseases.