Physician and seasoned life sciences investor with more than two decades of experience across clinical practice, ...

A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often ...

The clock inside Kim Stephens’ head runs toward a time when her son, Cole, may no longer be here. “I know [the clock is ...

A rare case of a woman sneezing out worms has spotlighted hidden parasitic infections. Experts explain how such infections ...

For most patients, the journey towards diagnosis is often marked by years of uncertainty, misdirected treatments and escalating clinical burden ...

When David Fajgenbaum and his colleagues launched the drug repurposing non-profit Every Cure, they chose a path that challenged the traditional research model.

This is read by an automated voice. Please report any issues or inconsistencies here. If you’re faced with a serious disease, you better hope it’s not a rare one. After an often tortuous path to ...

Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common diseases can lead to delayed or inappropriate treatments, thereby complicating the management of both rare and ...

Committee for Medicinal Products for Human Use (CHMP) issued a positive opinion, with European Commission (EC) decision ...

After a string of denials for rare disease treatments, the FDA greenlit a drug for Hunter syndrome, a progressive illness ...

Prioritising interventions requires focusing resources where impact can be maximised.