This project describes the role of the lab of Stephanie London in the Laboratory of Respiratory Biology in support of her epidemiologic studies. The laboratory is engaged in genetic and epigenetic analyses to support Dr. Londons epidemiologic projects. The lab supports follow-up of findings from our genome wide association studies of childhood asthma as well as adult pulmonary function. Human genome wide association studies are well designed to identify novel association with pulmonary and other traits. GWAS studies take advantage of correlation across the genome to find these associations. But this correlation makes it difficult to identify the causal variants or even the causal genes. Experimental models can help establish that a GWAS gene is causal. We had previously published two papers where we confirmed human GWAS findings for HTR4 in a knock out mouse model (PMID: 25342126 and PMID: 28130264). We developed conditional mouse models for LRP1. A paper will be submitted soon. We also developed a model for ADAM19 and work is underway to characterize this mouse model.
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