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overview My lab uses the specific strengths of two model systems (C.elegans and mice) to reveal the gene regulatory mechanisms that control motor neuron development and function. To reveal such mechanisms we employ novel methodology, such as whole genome sequencing, CRISPR genome editing, ATAC-seq and cell type-specific transcriptome profiling. Our laboratory aims to systematically test whether the function of the gene regulatory factors we discover in C.elegans is conserved across phylogeny using mouse genetics and novel genomic approaches. A detailed understanding of how the motor neurons develop and function may provide novel entry points into the etiology, diagnosis or treatment of motor neuron disorders, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS). From the basic science perspective, our research will reveal novel transcription factors, their targets and the cis-regulatory elements (motifs) through which these factors act. Such decoding of cis-regulatory information is a vital step toward understanding genome function.
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  • Spinal Muscular Atrophies of Childhood