Zycubo is a copper replacement therapy administered via subcutaneous injection to bypass impaired GI absorption in patients with Menkes disease.

In a study that spans more than a decade, researchers have looked at generations of families in a specific population to reveal the role newly inherited DNA variants play on recessive disease traits, ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface. In a study that spans more than a decade, researchers at Baylor College of Medicine have ...

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 ...

Many genetic variants linked to inherited eye disorders rarely lead to disease, meaning up to 2% of people could carry these variants without ever developing vision problems, according to a new s tudy ...