January 2013

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

New Autism-Related Gene Variants Discovered

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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. “Many of these gene variants may serve as valuable predictive markers,” said t …

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CHOP Receives Nearly $2 Million to Lead Antibiotic Study

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 who have a serious bacterial infection that requires prolonged antibiotic thera …

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PolicyLab Studies Underscore Importance of Development Screening

PolicyLab_Studies_Underscore_Importance_of_Development_Screening_Proposals

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 study of developmental screening that was published recently in Pedi …

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Proposals for Junior Investigator Preliminary, Feasibility Grant Program Announced

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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 to develop clinical research projects that  …

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Gene Therapy Offers Hope for Children with Canavan Disease

Gene_Therapy_Offers_Hope_for_Children_with_Canavan_Disease_CHOP

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. In addition, Canavan disease is often fatal, with many patients dying be …

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CHOP, BGI Strengthen Partnership with Brain Tumor Collaboration

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 state-of-the-art Joint Genome Center BGI@CHOP, which provides next-generation se …

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Clinical Research Coordinator Training Requirement Now in Effect

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 or before being listed as a coordinator on an active IRB protocol. Approval of new or conti …

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Two Center for Autism Research 2012 Studies Highlighted

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, while another study, published in Trends in Cognitive Science, was one of the five most popular articles p …

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Medals4Mettle — Racing for Life

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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. But CHOP Research is also a place where individuals quietly work on their own to better children’s lives, often volunteering their time. On …

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Nominations for 2013 CHOP Mentor Award Invited

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 faculty (not trainees). Up to three awards are presented annually, including an honorarium, an individ …

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