Definition of the events that initiate retinoblastoma as the basis for future prevention

The rare tumor, retinoblastoma, arises in the retina of children when both alleles of the RB gene are mutated. We determine the RB mutations in retinoblastoma probands and use that data to diagnose tumors before birth. We are initiating world clinical trials to optimize therapy. To understand why loss of the RB gene causes retinoblastoma in children, we are defining the precise time when the gene is expressed in the few types of retinal cells that depend on it to terminally differentiate. We have recently cloned a novel potential oncogene, RBKIN, which may which contribute to retinoblastoma initiation. To determine if RBKIN promotes tumor growth, we are blocking its expression in retinoblastoma and over-expressing it in murine retinal explants using a mammalian system that we have developed to express proteins at high levels in many cell types. Our long-term goal is to use the results of our research to block the development of tumors caused by RB mutations.

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