You’re seeing hundreds of images mosaic together to encompass the whole fly brain from tip to tip.” On a large monitor, the ...

PKD is a genetic disorder marked by kidney cysts and progressive damage. Discover the science, treatment guidelines, and ...

Researchers at the University of Oklahoma are advancing the fight against inherited retinal diseases (IRDs) with new genetic ...

Corina and Destiny lost their first child, Ahi o Te Aroha, at six months old. Although genetic testing identified a variant ...

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

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Researchers have developed a new blood test capable of rapidly diagnosing rare genetic diseases in babies and children.

A baby boy with a devastating genetic disease is thriving after becoming the first known person to receive a bespoke, CRISPR therapy-for-one, designed to correct his specific disease-causing ...

PHILADELPHIA — A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. Researchers described the ...

The baby's disease prevented the liver from removing ammonia Half of babies with the disease die in their first week of life The baby has already shown signs of improvement The baby's disease ...