This grant application requests partial support for a Conference, entitled """"""""PXE Research 2010"""""""". The meeting will be held September 8 and 9th, 2010 at the Bethesda North Marriott, Bethesda, MD, a handicapped accessible hotel. The meeting is coordinated and co-sponsored by PXE International, a nonprofit foundation, established in 1995, to advance research on pseudoxanthoma elasticum (PXE). This conference will capitalize on significant progress made in basic understanding of the genetics, etiology and potential treatments for the disease since the last research meeting in 2004. Though these advances are significant, they have highlighted a lack of linkage between the basic genetic and molecular advances and the pathogenesis of this disease.
The specific aim of this Conference is to review the current status of basic and translational research on PXE, determine the most relevant biomarkers and clinical endpoints in preparation for clinical trials, and evaluate a number of hypothetical therapeutic interventions including vitamin K therapy and anti-angiogensis therapies. Additionally, the meeting will review the understanding of the clinical manifestations of PXE, to come to consensus on diagnostic criteria. The Conference will provide a forum for investigators to discuss relevant advances in transporter biology, metabolism, genetics, and epidemiology and for clinically oriented colleagues and PXE International to jointly plan for future research and translational applications. The audience is expected to represent a broad spectrum of individuals with varying expertise including practicing clinicians caring for patients with PXE, physician-scientists and basic science investigators and lay leaders, all of whom share an interest in PXE. Further, the Conference will provide a forum for a cross-fertilization of ideas between the basic and clinical sciences that may not be achievable in more general meetings, and that is essential to translational research. The presence of clinical investigators from the disciplines of dermatology, ophthalmology, gastroenterology, metabolics, and cardiology will allow broad-based discussion of PXE with its many systemic effects, to inform the basic science to focus it, and conversely to set best practice standards for data collection and clinical care. A research plan will be developed and disseminated. Special attention is paid to the involvement of young investigators and trainees in this meeting, and involving both scientists and clinicians from underrepresented communities.
The PXE Research 2010 Conference is relevant to public health because it will create a model for other diseases to conduct effective disease conferences. In addition, pseudoxanthoma elasticum (PXE) causes a number of very common disease manifestations such as vision loss, severely wrinkled skin and cardiovascular disease. Solving these problems for PXE will offer solutions to the general public.