Das ist ein kleiner Schritt fuer einen Mann, aber ein riesiger Sprung fuer die Menschheit. That’s the German translation of the famous quote from astronaut Neil Armstrong as he stepped on the moon 50 years ago, July 20, 1969. It’s how I heard the historic...
At the 2018 National PKU Alliance conference in Atlanta July 5-9, I’m meeting many people from the world over all striving to improve the lives of those affected by phenylketonuria — the disorder they know so well but is barely recognized outside the PKU...
The University of Washington selected Dr. Michael H. Gelb to give the annual University Faculty Lecture Jan. 23, 2018. He’ll discuss his research passion toward helping infants born with lysosomal storage diseases. As part of the presentation, Dr. Gelb is also...
Newborn Screening in the News An excellent special report by the Chicago Tribune was recently published online. It details how five babies in Illinois born with Krabbe disease suffered from being undiagnosed and untreated despite the state mandating in 2007 that the...
Heartbreak of Krabbe disease: A mother’s story “My son’s life had some kind of meaning. But when I looked up, I just saw this black hole. Anne Rugari She buried her year-old son that day, sat on her front porch that night and stared at the sky....
