CBMi Featured in Nature Article: "De novo mutations in histone-modifying genes in congenital heart disease"
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. Here we compare the incidence of de novo mutations in 362 severe CHD cases and 264 controls by analysing exome sequencing of parent–offspring trios. CBMi staff contributed to this article published online in Nature May 12, 2013.
Philadelphia Hospitals’ Informatics Teams Target Sepsis Response
Sepsis, a dangerous condition caused by the immune system’s response to a serious infection, is one of the toughest challenges hospitals face. It causes 17 percent of all hospital deaths and is the leading cause of death in non-cardiac intensive-care units. Additionally, the incidence of sepsis is increasing in the United States. But healthcare informatics researchers are working on ways to quicken response times and improve outcomes. Two presentations by CBMi's Dr. Robert Grundmeier and medical candidate Katherine Clark from the University of Pennsylvania's Perelman School of Medicine presented at the 6th Annual Mid-Atlantic Healthcare Informatics Symposium are discussed in Healthcare Informatics Online.
CBMi pediatricians talk about health IT innovations for vaccines asthma
Doctors Robert Grundmeier and Alexander Fiks at the Center for Biomedical Informatics at CHOP talked about the Care Assistant program at a recent health IT seminar at the Quorum at the University City Science Center. It was originally designed as a tool to do more precise decision-support projects to improve healthcare outcomes using the provider’s electronic health record system from Epic.
