A child's years-long medical mystery was finally solved.

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted ...

MACEDONIA, Ohio — Imagine being told you had a chronic illness, only to find out years later that it was never the problem. Dan Yung's symptoms all pointed to a common chronic ailment, but turns out ...

Most people who visit a doctor when they feel unwell seek a diagnosis and a treatment plan. But for some 30 million Americans with rare diseases, their symptoms don't match well-known disease patterns ...

AS A QUESTION MARK. EVERY ACHE, EVERY STUMBLE, EVERY FRIGHTENING STEP. FEELS LIKE A PUZZLE NO ONE CAN SOLVE. SO THERE’S THOUSANDS OF THESE UNDIAGNOSED PATIENTS WHO JUST CARRY THIS BURDEN. HARRY ...

Scientists analyzing ancient DNA from a 12,000-year-old double burial in southern Italy uncovered genetic evidence of a rare inherited growth disorder in two closely related prehistoric individuals. A ...

Doctors and analysts are stunned by the timing of the diagnosis, sparking debate on transparency.