As a research scientist at the Jackson Laboratory, I am working on the internationally recognized Knockout Mouse Project (KOMP). In particular, I am characterizing novel embryonic lethal strains to identify the timing and cause of lethality. From this set of novel strains, I plan to investigate a previously unknown gene to elucidate novel developmental mechanisms, with a focus on cardiovascular development. Complementing this effort and my interests, I am employing CRISPR technology to model human disease variants in the mouse, taking advantage of our embryonic phenotyping pipeline that includes high-resolution 3D imaging platforms.
I am also involved in a project investigating a unique model identified through an ENU mutagenesis screen that exhibits high triglycerides and that presents coincident resistance to diet-induced obesity. We are interested in uncovering the molecular mechanism and underlying genetic drivers responsible for this phenomenon. Currently, a candidate gene we are pursuing is known to be localized to the mitochondria, thus we are interrogating the role of mitochondria in metabolic function using this unique mouse model. We are performing full ex vivo mitochondrial functional analysis testing as well as an in vivo liver, kidney and cardiovascular workup. Another ENU mutant I am currently characterizing has heritable dilated cardiomyopathy and holds promise for contributing a new much-needed mouse model for this disorder.
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