At Children’s Hospital of Philadelphia, we know innovation sometimes requires a second look at seemingly harmless practices and a willingness to break out of the status quo. In this edition of In the News, learn how an unnecessary emergency room visit prompted Christopher Bonafide, MD, to examine the use of physiological monitors for healthy infants, and read about a bold move toward future innovation with the grand opening of our new Clinical Manufacturing Facility for precision medical tools. Additionally, the Center for Child Injury and Prevention Studies’ Annual Report highlights important safety work with real-world implications, a new Penn-CHOP collaboration aims to investigate nutritional interventions to treat disease, and a CHOP patient gets the surprise of a lifetime in the name of autism awareness.
Monthly Archive: November 2018
The Human Genome Project’s successful completion 15 years ago gave us a new genomic lens to read our 20,000 or so protein-coding genes. Since then, a surge in next-generation sequencing technologies is generating new insights daily that sharpen our view of how the human genome works.
Yi Xing, PhD, was on the cusp of this revolution in medicine as he finished his PhD training in molecular biology and bioinformatics at University of California Los Angeles (UCLA). His research career began to rise during the incredible takeoff of big data science, and he became a prominent scientist in this cutting-edge field. The immense challenges of synthesizing diverse data sets from many sources come with vast opportunities to change pediatric medicine, which is why Dr. Xing is eager to assume his new role as the inaugural director of the Center for Computational and Genomic Medicine at Children’s Hospital of Philadelphia.
In a first-of-its kind study, scientists performed prenatal gene editing in animals to prevent a lethal metabolic disorder and effectively open the door for similarly treating congenital diseases in humans before birth. Using gene editing technology, the team successfully targeted a gene that regulates cholesterol levels to lower cholesterol and, additionally, turned off the effects of a mutation that causes a lethal liver disease called hereditary tyrosinemia type 1 (HT1) in mice.
The scientific wonder of stem cell research and its implications for medicine have come a long way in the last decade: At Children’s Hospital of Philadelphia Research Institute, our investigators’ innovative use of stem cell science to approach complex pediatric conditions continues to inspire for their potential to improve outcomes in children’s health. In our latest news roundup, learn about novel stem cell research from our Cancer Center and Division of Urology that aims to preserve the future fertility of boys who undergo childhood cancer treatment. Discover a new project co-led by a CHOP neurology researcher that takes a stem cell approach to restore vision cells in blind dogs.