John Manak


A primary focus of my laboratory is to identify genes associated with cleft lip and palate. We are using array-based comparative genomic hybridization (aCGH) to identify copy number variants (CNVs) in two clefting cohorts in order to ultimately identify genes within the genomic aberrations that might be driving the disorder, followed by functional analysis in zebrafish. Using this approach, we have identified a novel clefting locus, ISM1, which is in the same synexpression group as FGF8, a clefting candidate gene. We have performed aCGH on over 1,000 cases so far and are currently analyzing the data in order to identify additional clefting candidates. For this project, we are collaborating with the Murray and Cornell groups at the University of Iowa.

John Manak
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