January 2013

“Many of these gene variants may serve as valuable predictive markers.”- Hakon Hakonarson, MD, PhD

New Autism-Related Gene Variants Discovered


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 …

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CHOP Receives Nearly $2 Million to Lead Antibiotic Study


Ron Keren, M.D., M.P.H., director of the Center for Pediatric Clinical Effectiveness (CPCE), was recently awarded nearly $2 million dollars from the Patient-Centered Outcomes Research Institute (PCORI) to lead a study of antibiotic delivery methods. The three-year award will support a project examining whether children …

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PolicyLab Studies Underscore Importance of Development Screening


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. James Guevara, M.D., M.P.H., director of Interdisciplinary Initiatives at PolicyLab, led a …

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Proposals for Junior Investigator Preliminary, Feasibility Grant Program Announced


The Clinical and Translational Research Center (CTRC) is now accepting research proposals to be considered for the Junior Investigator Prelimi- nary/Feasibility Grant Program (JIPGP). The primary goal of the Clinical Translational Research Center (CTRC) Junior Investigator Preliminary/Feasibility Grant Program (JIPGP) is to encourage junior investigators …

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Gene Therapy Offers Hope for Children with Canavan Disease


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 …

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CHOP, BGI Strengthen Partnership with Brain Tumor Collaboration


The Children’s Hospital of Philadelphia (CHOP) 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 (CBTTC). The research initiative will draw on the resources of the …

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Clinical Research Coordinator Training Requirement Now in Effect


All existing clinical research coordinators, regardless of job title, were asked to complete the revised Clinical Research Coordinator Education Program by December 31, 2012. New clinical research coordinators, regardless of job title, are expected to complete this training within 90 days of their hire date …

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Two Center for Autism Research 2012 Studies Highlighted


The Children’s Hospital of Philadelphia’s Center for Autism Research (CAR) produced a number of breakthrough studies in 2012, two of which were recently highlighted by the scientific community. The advocacy organization Autism Speaks selected a CAR study as one of its top discoveries of 2012, …

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Medals4Mettle — Racing for Life


The Children’s Hospital of Philadelphia Research Institute is a big place, with a staff in the thousands working every day to improve the health of children. As such, CHOP Research is the source of a lot of big stories, about big advances against big diseases. …

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Nominations for 2013 CHOP Mentor Award Invited


We invite faculty at the rank of assistant professor or higher to nominate colleagues for the 2013 CHOP Mentor Award. The award recognizes faculty mentors who, during the past three years, demonstrated extraordinary dedication to fostering the professional development of other members of the CHOP …

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