James Lupski studies de novo rearrangements in the human genome and their role in complex and Mendelian human diseases. His laboratory uses next generation sequencing approaches and other methodologies to uncover mechanisms by which these rearrangements occur, as well as the particular phenotypes they lead to. He has been the recipient of various awards, among them the Bloemendal Medal and the DeBakey and Environmental Mutagenesis and Genomics Society Awards.