Maggie Matthews tells PEOPLE how her son Benjamin’s seizures led to a TUBA1A tubulinopathy diagnosis after months of ...

For expectant moms, what feels like indigestion or heartburn may actually be a potentially life-threatening illness.

Scientists have successfully used precision DNA editing to repair a genetic mutation linked to Dravet syndrome ...

Uh-oh, my dog just ate…” Fill in the blank, and chances are I’ve probably heard it during a triage call or from a frantic ...

Accessing health care can become something like a second job: spending hours on the phone to find available providers who take the right insurance, making regular trips to coastal counties to bring ...

Ellie Richards, 22, took her daughter to the GP, who thought the newborn could have a genetic disorder. But tests revealed ...