rare diseases

A newly approved drug can extend the lives of children with progeria, a rare disorder that causes rapid aging. The drug is the result of one family's effort to help a child with the fatal condition.

COVID-19 has led to the suspension of many clinical studies of experimental treatments. About a quarter of the stopped trials involved new cancer treatments, an NPR analysis finds.

Rapid genome decoding and analysis have made it possible to quickly diagnose some baffling rare diseases that make babies sick. Even when there's no cure, the information can help families cope.

Alex Yiu was born a seemingly healthy baby. But by age 2, his muscle control and speech were deteriorating. His baffling condition took a decade to diagnose. The reanalysis of a DNA test was the key.

The Food and Drug Administration approved a new gene therapy for a rare but devastating genetic disorder. The drugmaker says the cost is worth it because it's a one-time treatment that saves lives.

When Nikki and Danny Miller's two young sons developed strange symptoms, they began searching for a diagnosis. Their odyssey ended when a team of medical sleuths solved the case.