Mid-Atlantic Consortium Newsletter Summer 2013

Letter from the Director

Marc Yudkoff, M.D.With this issue of Collaborations, we highlight several exciting research initiatives supported by the Intellectual and Developmental Disabilities Research Centers (IDDRCs) at our three institutions. One is a nascent collaborative study of Fragile X syndrome by investigators at the University of Pennsylvania/Children’s Hospital of Philadelphia (CHOP) and the Kennedy Krieger Institute. The underlying gene defect in Fragile X was identified more than 20 years ago, but there still is no specific pharmacologic intervention to improve the cognitive deficits of affected children. Fortunately, recent research advances into the function of the mutant protein suggest that we are getting closer to finding drugs that might help. The Baltimore and Philadelphia researchers will do pioneering studies in both a mouse model of the disorder and in humans to improve the function of a group whose disability so far has proved unresponsive to medications.

We also are pleased to highlight new advances investigators at Children’s National Medical Center have made in uncovering the causes of brain injury in newborns, and in optimizing the neurologic outcome of youngsters who must undergo surgery for congenital heart defects.

This issue describes important and fascinating examples of the potential for translating the “language” of basic science into novel treatments – potential leveraged by collaboration.  We hope you will enjoy learning more about these achievements.

 

Marc Yudkoff, M.D.
WT Grant Professor of Pediatrics

University of Pennsylvania School of Medicine;

Director, Intellectual and Developmental Disability
Research Center and

Chief, Division of Child Development and
Metabolic Disease

Children’s Hospital of Philadelphia

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