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Geisinger researchers to present CHARGE syndrome paper at select workshop

CONTACT: Mike Ferlazzo: 570-214-7410, 515-450-2908 (c),
June 17, 2014


DANVILLE, Pa. – Three Geisinger Health System genetics researchers had their abstract, “CHARGE Syndrome: A new craniosynostosis syndrome,” accepted for a platform presentation at the prestigious 2014 David W. Smith Workshop on Malformations and Morphogenesis, which will take place July 25-30 at the University of Wisconsin campus in Madison.

Geisinger researchers Bonnie Salbert, D.O., pediatric genetics; Pamela Steele, genetic counselor, pediatric support services; and Marc S. Williams, M.D., FACMG, director of Geisinger’s Genomic Medicine Institute, joined with Meg Hefner, a genetic counselor and associate professor in St. Louis University’s Department of Pediatrics, to author the paper.

CHARGE (an acronym for Coloboma; Heart defect; choanal Atresia; Renal anomalies; Genital anomalies; and Ear anomalies) syndrome (CS) is a well-described multiple congenital anomaly syndrome most commonly due to mutations in the CHD7 gene. Craniosynostosis – a birth defect in which one or more of the joints between the bones of your baby’s skull close prematurely, before your baby's brain is fully formed – is not currently recognized as a CHARGE anomaly, but the researchers found evidence that it is. They document one case study in their paper and their research has now found 12 CS patients who have been identified with craniosynostosis.

“The ultimate goal is to improve diagnosis and management of individuals with CHARGE syndrome by better understanding the mechanism that causes it,” Salbert said. “Also, earlier diagnosis can be made by including this new feature in the diagnostic criteria.”

A panel of 12 reviewers chose the Geisinger research to be one of approximately 130 to be presented at the workshop from among some 170 submissions.