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 ...

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 ...

At 38 weeks pregnant, Marilyn Medina’s child appeared small on an ultrasound, so doctors induced labor. The newborn, Amiah, weighed in at five pounds, but aside from minor jaundice, she was otherwise ...

YouTuber Alfie Deyes opened up to his followers about his life-changing achalasia diagnosis, which finally solved the medical mystery that had impacted his life for over a decade YouTuber Alfie Deyes ...

Internal medicine and rheumatology specialist Siobhan Deshauer, MD, solves the mystery case of Sarah, a woman who began experiencing unusual dietary cravings and other symptoms. Following is a partial ...

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 ...