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

This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via AP) Emily ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

Some lucky people have rare genetic mutations that enable them to feel well-rested after just four hours of sleep, while the rest of us need around eight hours to function. Now, researchers have ...

Around 200 children in several countries were conceived with sperm from a single donor who unknowingly carried a rare genetic ...

Watch: Sperm Donor With Rare Mutation Linked to Cancer Sparks Debate After Fathering 67 Kids A sperm donor with a rare genetic mutation linked to cancer is sparking debate about regulation of the ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

NATIONWIDE — Emily Kramer-Golinkoff can't get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

People with diseases caused by rare mutations have fewer options and poorer prospects than other patients despite rapid recent advancements in the growing field of genetic science. Emily ...