New Insights into MEK Activity and RASopathy Mutations Using Model Organisms


Mon, Jan 27, 2020 12:00 pmuntilMon, Jan 27, 2020 1:00 pm


Life Sciences Building Auditorium
145 Bevier Road


(732) 445-1027 x 52563

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Rebecca Burdine, Ph.D.
Associate Professor
Molecular Biology
Princeton University

Congenital malformations can arise in isolation or within complex syndromes, and are the leading cause of infant mortality in the USA. One group of complex developmental syndromes is the RASopathies, caused by inappropriate activation of RAS signaling. RASopathy patients typically carry mutations in components of the core signaling pathway.  However, there are patients with “RASopathy-like” features that lack specific molecular diagnoses. Identifying new disease associated variants can potentially improve patient care, while extending our understanding of normal development.  We are using model organisms to explore how mutations that occur in RASopathies affect the function of the pathway in vivo, and using our systems to identify new genes involved in these disorders. We are also developing new tools, such as optogenetic approaches, to explore how RASopathy mutations impact development over time.