This year, gene-editing technology was customized to fix mutations in a single patient’s genes for the first time.

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth. To date, there haven’t been many reliable ...

There’s a good chance that you haven’t heard about a rare condition called chromhidrosis. In a nutshell, the person afflicted with the disease produces colored sweat, from yellow to green, even red ...

Gene editing has the potential to cure thousands of people suffering from devastating rare diseases. But the Nobel ...

Securing a diagnosis for a rare disease is a marathon, not a sprint. The search for an answer can become an odyssey of medical appointments and dead ends. But doctors diagnosed Fide Mirón’s condition ...