An immune-related gene has now been tied to a rare inherited neurological disorder, revealing an overlooked pathway in the nervous system.

Human cells have two copies of each chromosome, and this balance is essential for genes to be expressed in the appropriate ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team in Bochum and Tübingen has now solved one piece of the puzzle: The ...

People typically die from progressive supranuclear palsy within 7 to 10 years. There is currently no specialized treatment or effective screening for this neurodegenerative disease.

Sickle cell disease—the subject of a new Seminar in The Lancet—is one of the most prevalent and fastest-growing genetic disorders worldwide. Although its true prevalence is difficult to determine ...

A two-year-old girl who died from a rare genetic mutation just three years after the same condition claimed her three-year-old brother will have her death examined at an inquest.

He was often jolted awake in a cold sweat by a recurring nightmare of deafening crashes and desperate cries. But Aidaan*, just seven, had never lived through any of that. He couldn’t even describe ...

Heart conditions are one of the most common diseases among people globally. Lifestyle factors such as smoking, drinking, irregular sleep, stress and unhealthy diet – all these are often said to be the ...

A major breakthrough could help save the world’s bananas from a devastating disease. Scientists have discovered the exact genetic region in a wild banana that provides resistance to Fusarium wilt ...

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James Mills, a cardiologist for 35 years, knew he wanted to be a doctor when he was in first grade. “I was always fascinated by medicine,” said Mills, an associate professor of medicine at Robert Wood ...

Abstract: The integration of artificial intelligence (AI) with predictive methods and a deeper understanding of genetic diseases has the potential to greatly simplify and expedite the diagnosis of ...