UHI COBRE: PATHOGENETICS OF RECESSIVE PSEUDOXANTHOMA ELASTICUM

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The overall goal of this proposal is to define the pathogenetics of a rare heritable disorder with ocular, dermal and vascular phenotypes called Pseudoxanthoma elasticum or PXE. Progress in Year 4 included the continued work on new specific aims developed in the course of year 2 and exciting new results from an exploratory project intended to characterize the phenotype of a mouse model of thalassemia with respect to the PXE phenotype. The data obtained with both this exploratory poject and specific aim 2 thus far suggested that priority be given to the exploratory project. A CAMSSA (S11) submitted in the course of year 3 was reviewed and resubmitted to the National Institute of Arthritis and Musculoskeletal and Skin Diseases for a March 1, 2005 deadline. This revision capitalized on data deriving from the exploratory project related to PXE and beta-thalassemia. Anticipated goals for year 5 will include experiments under new specific aims 1 and the continued development of the exploratory project related to PXE and beta-thalassemia.