The hunt for the mystery genes

As head of the Undiagnosed Diseases Program of the US National Institutes of Health (NIH) William Gahl is a man accustomed to challenges. In fact every patient he encounters is a tough challenge. And that’s because he and his colleagues deal only with those on whom everyone else has given up.

As a former clinical director of the National Human Genome Research Institute, and with an interest in rare diseases, he came well prepared to the task. “I’ve always been interested in finding new diseases and helping patients who’ve been abandoned with respect to their diagnosis.”

Since the programme started in 2008 some 1700 people with undiagnosed conditions have been referred to Dr Gahl, and more than 300 have been accepted for an initial week of consultations and testing. “In the 15 to 20% of cases that we have successfully diagnosed . . . the results have taken from a week to as long as two years. We use the same tools …