It was a big year for children’s health: We celebrated the U.S. Food and Drug Administration’s approval of the world’s first chimeric antigen receptor (CAR)-T cell therapy this September, followed closely by approval of the very first gene therapy to treat inherited blindness this month — both of which have their roots at Children’s Hospital of Philadelphia and the University of Pennsylvania. But besides the big headline-making breakthroughs (brilliant as they are), we wanted to know what other stories captivated our readers in 2017.
Category Archive: Orphan Disease Center
It was weekend of firsts on many fronts, as physicians, genetic counselors, nurses, researchers, and families gathered July 21–23 at Children’s Hospital of Philadelphia Research Institute for the inaugural Deciphering Beckwith-Wiedemann syndrome (BWS) conference. BWS is a rare overgrowth disorder involving genetic and epigenetic changes that occur approximately every one in 10,500 births.