A federal advisory committee that provides guidance on which rare diseases newborns should be screened for has been dissolved ...

Nitisinone, a drug that is already used to treat two genetic diseases, could be repurposed to control the spread of malaria, ...

Discover the connection between blood disorders and cancer development, plus the 5 key signs that require immediate medical ...

Francesca Jones, a British tennis pro born with a rare genetic disorder, collapsed during a match in Colombia on Tuesday.

For patients with polycystic kidney disease (PKD), a common genetic disorder that ravages the waste-removing organ with cysts, dialysis and transplantation are among the only treatments. More than 12.

At only two days old, Sophie was losing too much weight, and too quickly. Further genetic testing would show that Sophie has ...

Lainie Jones has faced one of the harshest medical journeys of anyone alive, yet even so, she’s handled every step with ...

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving ...

For patients with polycystic kidney disease (PKD), a common genetic disorder that ravages the waste-removing organ with cysts ...

The drug fosdenopterin/rcPMP considerably improves the chances of survival and developmental progress in infants with ...

Denali Therapeutics is advancing the fight against neurodegenerative diseases thanks to pioneering work in methods to carry ...

BACKGROUND: Shared genetic and lifestyle risk factors may underlie the development of both coronary artery disease (CAD) and ...