Microglia replacement therapy helps treat people with a rare genetic condition called ALSP, suggesting the approach could ...

Genetic changes can signal evidence of disease, but pinpointing which genes and what's changed can be difficult.

Penn Medicine researchers have identified genetic conditions in a large percent of adults admitted to the intensive care unit ...

Researchers from the University of Adelaide are hopeful a recent biological discovery could lead to the precision treatment ...

The U.S. Food and Drug Administration has declined to approve Ultragenyx Pharmaceutical's experimental gene therapy to treat ...

For decades, the dream of fixing harmful mutations in mitochondrial DNA felt out of reach. Scientists have long known these ...

A hidden genetic mutation could predict a man’s likelihood of developing dementia. That’s according to an Australian study led by Monash and Curtin Universities, which analyzed the medical data of ...

As predicted the era of universal newborn genomic screening is dawning. The UK and Florida are leading the way.

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to ...

Logan Cyr, 16, joined a global accelerator program for teens that enables him to research cures for genetic malformations.

A woman with a rare genetic disorder called Apert syndrome turned an ordinary treadmill run into an extraordinary 26.2-mile feat. She documented it on TikTok and it went viral.