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CHOP, Penn Medicine Researchers Use Deep Learning Algorithm to Pinpoint Potential Disease-Causing Variants in Non-Coding Regions of the Human Genome
The methods help identify “footprints” that indicate binding sites and reveal variants that could increase risk for a variety of common diseases.
Children’s Hospital of Philadelphia Researchers Develop Specialized Growth Charts to Help Doctors Track Rare Pediatric Overgrowth Syndrome
Researchers from Children’s Hospital of Philadelphia (CHOP) collaborated with other health systems to develop specialized growth charts for children with Beckwith–Wiedemann Spectrum (BWSp), the most common epigenetic overgrowth and cancer predisposition disorder in children. The findings illustrate how newly developed growth charts are designed to better represent how children with the condition grow, which can improve personalized treatment.
Children’s Hospital of Philadelphia Researchers Find Gene Therapy Shows Long-Term Benefits for Hemophilia B Patients
Researchers at Children’s Hospital of Philadelphia (CHOP) announced the results of the longest follow-up study to date for individuals receiving the gene therapy fidanacogene elaparvovec to treat hemophilia B, a rare, X-linked disorder resulting from a deficiency in coagulation factor IX (FIX) activity.
Children’s Hospital of Philadelphia Researchers Develop Cell Atlas to Uncover Significant Shifts in the Neuroblastoma Tumor Microenvironment
Researchers at Children’s Hospital of Philadelphia (CHOP) developed a longitudinal atlas of neuroblastoma, a common and potentially deadly childhood cancer, to gain deeper understanding into precise molecular mechanisms underlying why and how certain treatments eventually become ineffective.
Children’s Hospital of Philadelphia Researchers Chart Natural History of Patients with SCN8A-Related Disorders
Researchers discovered increased incidence of specific seizures both in infancy and later in childhood that could help explain disease trajectory and set important clinical trial targets
Children’s Hospital of Philadelphia Researchers Shed Light on How Rare Pediatric Overgrowth Syndrome May Raise Cancer Risk
New research from Children’s Hospital of Philadelphia (CHOP) offers insight into how a rare genetic condition called Beckwith–Wiedemann syndrome (BWS) affects the liver and may raise cancer risk.
Children’s Hospital of Philadelphia-led Pilot Program Aims to Ease Burnout Among School Staff in Under-Resourced Schools
To reduce staff stress and burnout, researchers piloted a 12-session resilience program in two West Philly K-8 schools and evaluated its impact and adaptability.
10 Facts About Scoliosis: What to Know
A scoliosis diagnosis can leave parents with a lot of questions. Learn essential scoliosis facts parents and caregivers should know about this common, treatable condition.
Eating Behaviors Altered with EoE
CHOP study reveals patients with eosinophilic esophagitis alter their eating behaviors to increase both chewing time and meal consumption time.
Feature Article: Have You Wondered? Vaccine Schedule Edition
Do you have questions about the recommended vaccine schedule? Find answers to some common questions and get links to more information.