A patient report submitted to the FDA provides insights on living with ARPKD and unmet medical needs. An “ARPKD Therapeutic Development Roadmap” is forthcoming. Current treatments for autosomal ...

The medical student, who grew up near Chester, said he wants to become a transplant surgeon due to his own experience ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

Rotor syndrome is a rare and typically harmless genetic condition affecting the liver. It causes jaundice, mild yellowing of skin and eyes, and generally doesn’t need treatment. Rotor syndrome is a ...

CLINCH COUNTY, Ga. (WALB) - Avery and Mollie James welcomed their first child four months ago. They had no idea that their son, Talon, would be diagnosed with autosomal recessive osteopetrosis at just ...