Solving the Toughest Medical Cases: Rare and Undiagnosed Diseases

Stephen Guthery, MD, sees kids with diseases that are so rare, they may be one of only a handful who have ever been reported having it. He describes the hurdles these patients and their physicians must overcome on a routine basis to get appropriate health care. He also discusses his success with a new science, whole genome sequencing, that has already opened doors to new treatment options.