For children with hemophilia, every new research advance is a step toward a life filled with more activity, freedom, and adventure. The genetic condition, which affects roughly one in 5,000 births, causes children to bleed and bruise more easily than others – meaning that a simple cut, scrape, or small surgery can result in uncontrollable and excessive bleeding. While hemophilia is a lifelong condition, breakthroughs in the laboratory are driving novel treatments, and thanks to recently announced grants from the Bayer Hemophilia Awards Program (BHAP), scientists at Children’s Hospital of Philadelphia will be able to continue conducting even more investigations.
Every day, we learn about the exciting new ways our investigators and staff at Children’s Hospital of Philadelphia modernize medicine and revolutionize healthcare for children. This week, we’re thrilled to report on a handful of new headlines about those breakthroughs, including a data-driven collaboration led by CHOP that aims to uncover the ties between cancer and birth defects through cloud-sharing technology, Madeline Bell’s recent inclusion into Modern Healthcare’s “100 Most Influential People in Healthcare” for 2017, and how our clinicians are improving community health beyond the clinic. Here are your latest highlights in CHOP research news.
Differences in mitochondrial function are a major factor in understanding the origins of autism spectrum disorders (ASD), according to a new study led by Douglas Wallace, PhD, director of the Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia, that points way back to genetic vulnerabilities accumulated during ancient human migrations.
Nobody enjoys sitting in a doctor’s waiting room, especially when they have an uncomfortable skin condition. A Children’s Hospital of Philadelphia study team tested a direct-to-consumer mobile app designed to facilitate routine dermatologic consultations for children and adolescents. The pilot study results showed the telemedicine technology was acceptable, easy to use, and expedited care.
At 2 ½ years old, pediatricians at Children’s Hospital of Philadelphia diagnosed Brynn Clare Connor with Rett syndrome, a rare neurodevelopmental disorder that disrupts a child’s communication, coordination, muscle control, and growth over time. Caused by a mutation in the MECP2 gene, Rett syndrome can occur in both genders but almost exclusively affects girls.
Ear infections, e-cigarettes, and exciting collaborations, oh my! In this week’s research news roundup, we followed the trails of our clinicians and investigators as they used expertise and evidence to weigh in on mainstream health issues.
Self-driving cars are speedily racing toward becoming an everyday reality, with Congress considering recently introduced bills that would allow the US National Highway Traffic Safety Administration (NHTSA) to oversee the deployment of autonomous vehicles on public roads, pre-empting individual states from issuing local laws.
Don’t let those crisp, white lab coats fool you. While researchers share the ultimate goal of reaching new findings that can advance the best possible medical care, they aren’t all the same.
A two-step electronic alert system successfully reduced missed sepsis diagnoses in children by 76 percent. The new pediatric protocol, which incorporates the use of vital signs, risk factors, and a clinician’s judgment, shows promise as a sensitive and specific tool that can help pediatricians working in the emergency department (ED) save lives.
Read on for more exciting headlines from this week, including highlights from our inaugural “Deciphering Beckwith-Wiedemann Syndrome” conference.