By Barbara Drosey
Tag Archive: Perelman School of Medicine
By Barbara Drosey
Recognizing the importance of providing context for the rapid advances in whole exome and genome sequencing, data collection, and biological information, Marcella Devoto, PhD, developed the Symposium on Advances in Genomics, Epidemiology, and Statistics (SAGES) with colleagues at the University of Pennsylvania, Princeton University, Johns Hopkins University, Columbia University, and the National Human Genome Research Institute to create a space for colleagues to address these analytical challenges.
“One of its major strengths is the span of research in the areas of genomics that SAGES covers, from statistical methods to clinical applications,” said Dr. Devoto, a researcher in the division of Human Genetics at CHOP and professor of Pediatric, Genetics, and Epidemiology at Penn.
By Nancy McCann
It’s Teacher Appreciation Week, and we’re taking our big thinking-caps off to four teachers of excellence honored by the Perelman School of Medicine at the University of Pennsylvania. A total of 18 professors with a penchant for pedagogy were selected for the 2019 teaching awards, and four of the honorees share their talents with Children’s Hospital of Philadelphia and its Research Institute:
One-month-old Connor only dimly perceives the world around him. Just two months later, when he sees his mother’s beaming face or hears his father’s hearty laugh, he smiles with recognition. And by the time Connor reaches his first birthday, he’s starting to put one foot in front of the other and verbally communicate with his parents. Just what accounts for these significant changes?
Thrombosis — the abnormal, life-threatening blood clots that form in the artery or vein — does not discriminate. Young. Old. Rich. Poor. Gender. Race. Ethnicity. We’re all in this together. We’re all susceptible. Some more so than others.
Up to 900,000 people in the U.S. are affected by blood clots each year; 100,000 will die, which is greater than the total number of people who lose their lives each year to AIDS, breast cancer, and motor vehicle crashes combined.
The Fifth Annual Microbiome Symposium: Microbes, Metabolomics, and Modern Diseases highlighted the synergy of the Children’s Hospital of Philadelphia and University of Pennsylvania scientific community to produce incredibly novel and exciting research.
Hosted by the PennCHOP Microbiome Program, the Nov. 8 symposium brought experts from the fields of microbiology, immunology, gastroenterology, cell and molecular physiology, and pathology together with a common goal: to share developments from their labs with the end game of improving outcomes for individuals with chronic disease.
Larry Jameson, MD, PhD, executive vice president, University of Pennsylvania Hospital System and dean of the Perelman School of Medicine, welcomed attendees to the packed Gaulton Auditorium.
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.
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.