As part of a three-part Q&A series on Cornerstone, we’re introducing new members of the Children’s Hospital of Philadelphia research community. The Postdoctoral Fellowship for Academic Diversity supports our belief that innovation is enhanced when a diverse group of researchers from a variety of backgrounds, disciplines, and perspectives contribute to solutions. In this series, we’re learning more about our newest Diversity Fellows through their own voices, taking us on a journey from where their research paths began to their favorite pastimes.
Breakthroughs occur when great minds from a variety of backgrounds join together in the spirit of innovation. At Children’s Hospital of Philadelphia, we see diversity as a key driver of achievement and crucial when the accomplishments at stake have the potential to change, and even save, children’s lives. Among the ways CHOP demonstrates its commitment to diversity in research is the Postdoctoral Fellowship for Academic Diversity. Three new diversity fellows recently joined the CHOP research community, bringing the wealth of their unique education, training, and life experiences. In a three-part Q&A series, we’ll learn more about these scholars, their areas of expertise and interest, and even a little bit about how they spend their hard-earned downtime.
By Nancy McCann
We start this edition of In the News with a look at the prevalence of sleep problems in young children with autism spectrum disorder, a study on opioid prescriptions for kids with broken elbows, and Children’s Hospital of Philadelphia’s grand opening of the Healthy Weight Food Pharmacy and the research behind it.
By Sharlene George
While parents busily prepare for the arrival of their newborn in the final stages of pregnancy, life in the womb also is full of activity. The cerebral cortex in the third trimester is maturing rapidly, establishing the complex neuronal connections needed to navigate a wondrous world. Researchers at Children’s Hospital of Philadelphia suggest a new noninvasive method based on diffusion kurtosis metrics could be used to map how the microstructure of brain regions develop during early infancy. This 4-D spatiotemporal cytoarchitectural signature could provide effective imaging markers to help scientists better understand typical and atypical brain development and the emergence of certain brain functions.
Bundled up in winter clothes from head to toe, 7-year-old Eric rolls a snowball around the backyard with his older brother, building it into a sizeable snowman. Mom, watching from her perch at the kitchen window, can hear her boys laughing — until — Eric doubles over in acute chest pain, crying out for her. Rushing to his side, she wonders how many more of these excruciating episodes and trips to the hospital Eric can endure.
Pediatric emergency department physicians work at a fast pace to problem solve and provide the right treatment at the right time. Embracing this sense of urgency, physician-researchers with Children’s Hospital of Philadelphia’s Violence Prevention Initiative (VPI) are studying if the ED could be an ideal atmosphere for clinicians to educate patients and families about the risk of firearms, both for unintentional injury and for suicide.
Scientists are driving new discoveries about the role of genetic variation in specific human disorders at an exciting and unprecedented pace, and physicians are increasingly incorporating genetic tests into pediatric clinics as a diagnostic tool. But with high-throughput sequencing methods continuously yielding floods of new information, how can clinicians keep up with updated data for patients who have already received genetic test results?
This week, we highlight the results of innovation powered by collaboration, within Children’s Hospital of Philadelphia Research Institute and around the globe. A multicenter, international consortium revealed genes newly linked to epilepsy, while CHOP CEO Madeline Bell visited Dubai for an interchange of knowledge and technology at the largest medical conference in the world. Closer to home, the Children’s Hospitals’ Solutions for Patient Safety Network, comprised of 135 hospitals in the United States, published its findings on the most effective targets for pediatric patient safety research, and a high school intern helped researchers recruit participants for a teen driving study. Learn about the latest trends in pediatric opioid prescription, and get an update on the Delaney family, whose conjoined twin daughters were separated with painstaking care by a multidisciplinary team at CHOP.
Editor’s Note: This guest blog by Brian Jenssen, MD, MSHP, originally appeared on the PolicyLab website. Dr. Jenssen is a faculty member at PolicyLab, an assistant professor in the Department of Pediatrics at the University of Pennsylvania, a practicing primary care pediatrician at CHOP, and Medical Director of Value-Based Care for CHOP’s Care Network (a primary care network for 260,000 pediatric patients in Pennsylvania and New Jersey). His research involves the use of clinical decision support systems and population health management techniques to protect children from secondhand smoke exposure and tobacco use.
The human genome contains approximately 20,000 genes, and exome analysis focuses on about 7,000 genes known in medical literature to be clinically associated with a disease. Currently, up to 70 percent of exome test reports are negative or inconclusive. But suppose at a later date a researcher discovers a gene that could be causative of the disease?
Children’s Hospital of Philadelphia researchers led by Avni Santani, PhD, associate professor of Clinical Pathology, developed a useful tool for automated reanalysis that facilitates efficient reevaluation of nondiagnostic clinical exome sequencing (CES) samples using up-to-date literature published after the initial exome analysis was performed. They demonstrated this methodology enabled identification of novel diagnostic findings in almost 16 percent of previously nondiagnostic samples.