Steve Murray, Ph.D.

Research in my laboratory focuses on two major areas: dissecting the genetic mechanisms of mammalian development, with a focus on craniofacial development and dysmorphology, and developing new genetic tools and resources for the scientific community. We have a longstanding interest in the genes and mechanisms that govern neural crest formation, migration and differentiation. Defects in these processes often result in craniofacial abnormalities. We take both forward and reverse genetic approaches to identify new genes and pathways involved in neural crest and craniofacial development, taking advantage of unique tools and resources available at JAX. We are also working with a number of clinical collaborators, using CRISPR/Cas9 to model novel mutations hypothesize to cause a variety developmental disorders including congenital heart disease and craniofacial malformations.

Supporting this basic research interest, a significant portion of the lab effort is dedicated to developing new mouse genetic resources for the scientific community. This includes development of Cre driver resources and the JAX Knockout Mouse Phenotyping Program (KOMP2). The overarching goal KOMP2 and its partners in the International Mouse Phenotyping Consortium (IMPC) is to generate and phenotype a genome-wide set of knockout mice to build a comprehensive catalogue of gene function. As part of this effort, we have established a high-throughput platform to identify and characterize novel essential mouse genes (embryonic lethal) using advanced imaging techniques such as embryo microCT and optical projection tomography (OPT). This platform not only provides numerous new gene targets for further examination, it also serves as a key tool for our efforts to rapidly model human developmental disorders in mice. Our Cre driver program involves both generation of novel cre driver lines for the scientific community and a pipeline for characterization of both new and existing lines.

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