Most of my current research is aimed at understanding the molecular basis of human genetic diseases which are present on chromosome 8. These include genes for hearing loss, blindness, bone and cartilage defects, and various forms of cancer.
Of major interest is the molecular and genetic characterization of the Langer-Giedion Syndrome (TRPS II) in humans. Patients with Langer-Giedion syndrome are characterized by a series of defects in proper cartilage and bone development, but a variety of other symptoms can be present including mental retardation. The gene or genes responsible for LGS have been localized to a small region of the long arm of human chromosome 8. LGS is a contiguous gene syndrome that overlaps with TRPS I, TRPS III, and EXT1. We are currently trying to isolate the LGS gene(s) in order to understand the molecular basis for this disease syndrome.
Among my other interests is the characterization of the direct developing Texas Chirping frog, Syrrhophus cystignathoides campi. Unlike the eggs of most frogs which develop into swimming tadpoles prior to metamorphosis in to adult terrestrial frogs, the eggs of this species develops directly into miniature terrestrial adult frogs. The unusual developmental pattern is being studied both at the cellular and evolutionary levels. To listen to a Chirping frog click here.
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Last updated 1/17/97.