AMD is one of the rarest documented genetic disorders. Only around 10 million people in the world carry the altered NPR2 gene ...

A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a ...

When two defective gene variants combine, normal protein function can sometimes be restored.

A double burial found in southern Italy more than 60 years ago has just yielded a striking new secret: ancient DNA has confirmed a rare inherited form of dwarfism in a teenage girl who lived around 12 ...

The crisis facing rare disease and disability families in Connecticut is caused by systemic underinvestment, administrative barriers, and policy choices.

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from ...

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can ...

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...

Chennai hospital successfully performs liver transplant on two-year-old with primary hyperoxaluria, improving his kidney ...

A research team at the University of California San Diego has discovered a novel and promising method of treating arrhythmogenic cardiomyopathy (ACM), a rare inherited heart disease that can strike ...