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Geisinger geneticists present papers at prestigious international meeting

CONTACT: Richard Fogaley,
May 7, 2014


DANVILLE, Pa. – Geisinger researchers Bonnie Salbert, DO, and Marc Williams, MD,  have had papers accepted to the 35th Annual David W. Smith Meeting on Malformations and Morphogenesis to be held in July in Madison, WI. The Smith meeting is to achieve  “…better understanding how human malformations occur and the underlying mechanisms of morphogenesis.”

The meeting began in response to a lack of systematic scholarship on the cause of birth defects. Medically significant birth defects occur in 3-5% of all newborns and account for 30-40% of all pediatric hospital admissions. Understanding the mechanisms leading to birth defects is the first step in preventing them.

The meeting is limited to around 125 participants, all of whom must have a paper accepted for either platform or poster presentation. Competition is very intense and involves submissions from all over the world. This year two Geisinger Health System geneticists have had papers accepted for presentation.

Dr. Salbert submitted an abstract entitled: CHARGE Syndrome: A New Craniosynostosis Syndrome that was accepted for a platform presentation. GHS co-authors are Pam Steele, LGC and Marc S. Williams, MD. This was in collaboration with Meg Hefner CGC from St. Louis University representing the CHARGE Syndrome Foundation.

Dr. Williams’ abstract, Massively Parallel Sequencing and Syndrome Delineation: Dulling Occams’ Razor? was accepted as a poster. Dr. Williams is also a co-author on two other platform presentations: Leri Pleonosteosis caused by microduplications of 8q22.1 microduplications leading to altered SMAD signaling, for which Janet L. Williams, LGC is also a co-author, and a family with a germline mutation in SMARCB1 leading to familial schwannomatosis and malignant rhabdoid tumor with a new finding of malignant peripheral nerve sheath tumor. The impact on the perturbation of the SWI/SNF chromatin remodeling complex is explored.  

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