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

Charlie Health reports that eating disorders are significantly influenced by genetics, with family history increasing risk ...

With headlines new-born babies could have their DNA screened, Dr Oscar explains how it can help diagnose genetic diseases. He ...

A researcher says an experimental gene therapy for a rare inherited disorder is saving almost as much money for the treatment ...

Scientists have found 473 human genes that behave like on/off switches, revealing links to cancer, immune conditions, and ...

Mitochondria are the body's "energy factories," and their proper function is essential for life. Inside mitochondria, a set ...

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

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

In a clinical report issued by the American Academy of Pediatrics and published online June 23 in Pediatrics, guidance is ...

New research has uncovered 2 neurodevelopmental disorders using data from the National Genomic Research Library. These ...

By focusing on twins and patients with lupus and Parkinson’s disease, a Mexican consortium is generating critical data to ...