Harlequin ichthyosis affects just a handful of newborns each year in the US, but the condition is unmistakable, marked by a ...

The genetic disease harlequin ichthyosis affects the transport of fats within the skin, resulting in hard, scalelike plaques ...

Donald Gallant's son, Kristopher, was born with a rare genetic disorder affecting his chromosomes. This is his story, and his ...

Patients with rare diseases are increasingly working to find and fund their own cures. But should they have to?

Genetic disease is believed to be linked to 41 percent of U.S. infants' deaths, while more than 2 million children have a ...

Huntington’s disease is a rare genetic disorder affecting movement, memory, and mood. Here’s what we know—and what’s ahead.

A new laboratory method developed by researchers at Columbia University Vagelos College of Physicians and Surgeons may now ...

A Yukon couple searches for support as their baby receives a rare central hypoventilation syndrome diagnosis, a condition ...

Last summer, Bryan and Danielle Docobo lost their 4-year-old son Ethan to Coats plus syndrome, a rare genetic disorder that affects brain function, bone density, and the gastrointestinal system. Over ...

Uncovering India's genetic richness through comprehensive genomic mapping reveals unique ancestry and health implications for ...