Kevin Francis, PhD, Lab
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Primary Research FocusUsing cellular and animal models which enable us to dissect cell-specific and time-dependent cellular mechanisms, we are resolving the functional and developmental consequences of molecular interactions to better understand how genetic changes result in disease initiation and progression. Research in the Francis lab primarily takes advantage of the process of cellular reprogramming to generate induced pluripotent stem cells (iPSCs) from patients exhibiting rare diseases, allowing us to model these diseases, identify cellular phenotypes, and delineate disease mechanisms in the laboratory. Using a variety of technical approaches, our goals are to define the cellular mechanisms underlying rare diseases resulting from various genetic mutations, identifying signaling pathways and targets amenable to patient therapy.
Behind the researchDr. Francis’ current research projects are focused on rare pediatric disorders of cholesterol synthesis and trafficking. Using genetic mouse models and iPSCs derived from patients diagnosed with these rare disorders, we are examining how cholesterol and cholesterol precursors interact with developmentally critical signaling pathways, such as the Wnt and Sonic Hedgehog signaling pathways, to affect neural development, cellular function and disease pathogenesis. A wide array of experimental techniques is utilized within the laboratory including non-integrating cellular reprogramming methods of various cell types, immunocytochemistry, whole genomic sequencing, high-throughput screening methods and standard molecular biology and biochemical assays. A number of ongoing collaborations with researchers at Sanford Research, USD, and SDSU, as well as external collaborators at the University of Tennessee Health Sciences Center, University of Illinois at Chicago and Sanford-Burnham-Prebys Medical Discovery Institute, are harnessing the power of reprogramming technology for the study of other rare disorders affecting neurodevelopment and function. These projects and others are also delving into basic biological questions regarding how lipid metabolism regulates normal developmental processes and cellular function. ProjectsMechanisms underlying neural phenotypes of cholesterol synthesis disorder
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