Rare inherited genetic variants significantly increase familial lung cancer risk, offering new targets for early detection.

Bethany Oeming has often fielded questions from people wondering what the secret was to her muscular body. At 36, when she was pregnant with her second child, she was diagnosed with a rare genetic ...

Bored Panda has curated a list of people with rare physical traits that might make you do a double take. From extra or ...

The parents of 7-week-old Dhruvan Gopi were warned he might not survive the night as specialists converged around his crib at ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days. A groundbreaking blood test promises to transform ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Whether we are predisposed to particular diseases may depend to a large extent on variations in our genomes, but the influence on the presentation of certain pathological traits of genetic variants ...

With 80% of rare diseases having a genetic basis, it is critical for life sciences organizations to effectively identify and recruit participants whose molecular diagnoses match study criteria for new ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...