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 ...

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

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

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 ...

In a comprehensive Genomic Press Thought Leaders Invited Review, researchers have synthesized findings from dozens of studies ...

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

A deep-learning model trained on human data reveals that promoter mutations may explain a significant portion of unsolved ...

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