The overarching goal of my research laboratory is to elucidate the genetic basis of several human diseases/disorders, either by modeling the disease in fruit flies, or by analyzing genetic variation in patient samples.
Using fruit flies to study epilepsy, we have shown that mutations in Prickle genes cause myoclonic epilepsy in flies, mice and humans, and are leveraging the powerful molecular genetic tools in the fly to identify additional genes (and pathways) associated with the disorder, as well as developing novel drug therapies. We use a variety of cutting edge genomics methodologies, including arrayCGH and exome sequencing, to identify etiologic mutations in humans for disorders such as cleft lip and palate, renal agenesis, spina bifida, and branchio-oto-renal (BOR) syndrome. We have discovered new disease genes for the first three disorders, and a recombination hotspot for BOR that drives the disease process. The third project involves elucidating the function of the Myb oncoprotein in fruit flies. Recently, we have shown that, in the absence of Myb, retrotransposition is derepressed in somatic tissues, which may help explain the genomic instability phenotypes observed in many cancers. Finally, we are using tiling arrays and next gen sequencing methodologies to study the genomics of a new model organism (Oikopleura dioica), a tunicate that has retained the basic body plan of chordates. All of these projects take advantage of current genomics techniques to help answer fundamental questions in the biomedical sciences.