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

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

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

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 ...

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 ...

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 ...

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

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 ...

A newly identified severe congenital syndrome of deafness, blindness, albinism, and dense fragile bones can arise when two people, each of whom have a rare, specific form of deafness, have children, ...