The 2007 Progeria Research Foundation Workshop on Hutchinson Gilford Progeria

点击翻译按钮获取中文摘要

DESCRIPTION (Provided by applicant): Hutchinson-Gilford progeria syndrome (HGPS or Progeria) is a rare, fatal, premature-aging disease in which all Progeria children die at an average age of thirteen years due to strokes or heart attacks, a consequence of prolonged atherosclerosis. Progeria and a number of other progeroid diseases are caused by a mutation in the LMNA gene which encodes lamin A, an inner nuclear membrane protein that serves as a key structural and cell signaling molecule throughout the body. The turning-point discovery in 2003 of the lamin A gene's role in Progeria has provided the framework for the development of new mouse models of Progeria and a first-ever drug trial (phase II) for Progeria children. Importantly, the newly discovered production of the Progeria mutant protein (progerin) in the normal adult population is thought to be a potential factor in the development of cardiovascular disease (CVD) and in the typical aging process. The Progeria Research Foundation (PRF) was founded in 1999 with the mission to discover the cause, treatment and cure for Progeria and its aging-related disorders, through research and education. The collaborative efforts of PRF and NIH has yielded exciting scientific research into Progeria and its relationship to CVD and aging through a series of workshops held every other year: 2001, 2003 and 2005. These prior three workshops have propelled the field of Progeria into exciting scientific advances. To maintain the momentum of scientific discovery and support programs for the Progeria medical community, PRF is seeking NIH funding for a 2007 workshop (Nov 12-14, Boston MA). The 2007 workshop agenda has been formed by a PRF organizing committee with the guidance of an advisory panel of national experts from the fields of aging, lamin biology, and Progeria. The structure of the workshop will include 22 formal speakers, 2 open sessions for "latebreaking" experimental results, 30-40 poster presentations, and an opportunity to meet Progeria children and their families. Informal discussions will be encouraged during on-site shared meals and poster sessions. Junior scientists are encouraged to participate and share their results, particularly through the poster sessions. The selected speakers (clinicians and scientists) have made significant contributions in their fields, encompassing areas of genetics, physiology, cell biology, biochemistry, CVD and aging. The workshop format has been designed to foster collaborative scientific efforts, discuss funding sources, provide an open forum for determining new directions for research, and inform participants on the progress of ongoing PRF infrastructural programs that aid the scientific and medical communities (i.e. PRF Progeria patient registry, cell and tissue bank, clinical and research database, and diagnostics program). We are at the early stages of new directions for research into the mechanisms of disease caused by alterations in the lamin protein. Exploration into the basic cellular biology and biochemistry of this molecule will require intense study and collaborative efforts from the scientific community. We predict a highlight of the 2007 workshop will be the discussion of farnesyltransferase inhibitors as effective treatment in Progeria animal models and potentially in children with Progeria. Workshop topics will include the natural history of this multi-system disease, the potential for genetic therapies, and stem cell transplantation in HGPS. Effects of Progeria mutations on different tissues of model mice are likely to fuel studies on heart disease and normal aging, as well as important studies on the mechanisms by which osteoporosis, insulin resistance, and other developmental abnormalities found in Progeria arise. (End of Abstract)