Identifying Targeted Therapeutics in Beckwith-Wiedemann Syndrome

Background

While some of the genetic changes that lead to Beckwith-Wiedemann Syndrome (BWS), a cancer predisposition disorder with a diagnosis rate of one in four in children, are understood, it is still unknown how those genetic changes lead to tumor development.

Project Goal

Rebecca will be working with the BWS registry/repository to study how DNA damage and small molecules alter expression and growth pathways in BWS samples compared to non-BWS samples. They will screen BWS patient samples for potential therapeutic modulators and assess DNA damage.  If the hypothesis is true that BWS samples are more prone to DNA damage compared to non-BWS samples, this study will help monitor the effect of radiation-induced damage on patient samples and to prepare fibroblast samples for small molecule screening for targeted therapeutics in the High Throughput Screening Core at PENN.