The Children's Hospital of Philadelphia Research Institute is a big place, with thousands working every day to improve the health of children, helping making big advances against big diseases. But CHOP Research is also a place where individuals quietly work on their own to better children's lives.

The Children's Hospital of Philadelphia and BGI-Shenzhen recently announced an agreement to collaborate on research into next-generation sequencing and analysis of pediatric brain tumors, in support of the Childhood Brain Tumor Tissue Consortium.

A rare inherited neurological disorder, Canavan disease has a devastating effect on patients and families. The lack of a specific enzyme — known as aspartoacylase — causes the body's central nervous system to break down. Complications associated with the disease include mental retardation, blindness, and an inability to walk.

By pointing out the importance of standardized screening and communication between clinicians and caregivers, a pair of new studies from CHOP's PolicyLab can help physicians and families better support children with developmental disorders.

Ron Keren, MD, MPH, director of the Center for Pediatric Clinical Effectiveness, was recently awarded nearly two million dollars from the Patient-Centered Outcomes Research Institute to lead a study of treatments for serious bacterial infections in children.

Genetics researchers have identified 25 additional copy number variations (CNVs) — missing or duplicated stretches of DNA — that occur in some patients with autism. According to the researchers, these are "high impact" CNVs: although individually rare, each has a strong effect in raising an individual's risk for autism.