Purple urine? Skin like tree bark? An allergy to water? To the patients who have them, these weird diseases, syndromes and ...

A Maryland family’s yearslong search for a cure for a rare disease may become more challenging with proposed cuts to medical research. Most doctors have never seen or heard of 19-year-old Elouise ...

A new JAMA report warns of rising eastern Equine encephalitis cases in the U.S., giving attention to neurological impacts in ...

In 2016, a paper in the South African Journal of Science reported the world’s oldest known human malignant tumor on a 1.7-million-year-old toe bone from a hominin unearthed in South Africa’s ...

Researchers have demonstrated a specific type of genetic variation in obsessive-compulsive disorder (OCD) for the first time using advanced DNA sequencing technology. The findings support previous ...

Doctors have successfully used gene-editing therapy to treat an infant born with a rare genetic disorder in what experts are calling a historic medical breakthrough.

A baby in the US is among the first people with a rare genetic disorder to be treated with CRISPR, a customised gene-editing therapy that allows scientists to edit DNA. The baby, known as KJ, was ...

The technique used on a 9½-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.

Some rare psychological disorders may occur so infrequently that most mental health professionals might never encounter them.

Anna Gray, 27, was diagnosed with Fowler’s syndrome, a rare disorder that’s left her without the ability to urinate for the past six years.