PRF 10th Anniversary Workshop on Progeria - "From Bench to Bedside in a Decade"

描述（由申请人提供）：

DESCRIPTION (provided by applicant): Hutchinson-Gilford progeria syndrome (Progeria or HGPS) is a rare, autosomal dominant segmental premature-aging disease in which 100% of children die at an average age of thirteen years due to strokes or heart attacks, a consequence of prolonged atherosclerosis. It is 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. Importantly, the abnormal lamin A (called progerin), is also produced by normal individuals at low levels and builds up in nuclei with increasing age. Roles for lamin A and progerin in the heart disease and aging that affect us all have come to light only in the wake of the Progeria gene discovery. Hence, the study of this rare disease has provided a new avenue for the study of cellular aging and vascular disease in the normal aging population. The Progeria Research Foundation (PRF) was founded in 1999. Its mission is to discover the cause, treatment and cure for Progeria and its aging-related disorders, through research and education. An exciting effort for research into Progeria and its relationship to cardiovascular disease and aging has been developed through a series of 5 scientific workshops held in 2001, 2003, 2004, 2005 and 2007. These workshops have propelled the field from obscurity, through gene discovery, creation of Progeria mouse models, natural history studies, testing treatments in the laboratory, and initiation of first-ever treatment trials for children with Progeria. This 2.5 day meeting will begin with a special panel discussion with parents and children living with Progeria. This will be followed by two days of 25 formal presentations, 40-50 poster presentations, and an informal evening meeting session. Experts in the fields of aging, heart disease, lamin biology, and Progeria, as well as experts on cutting edge research such as induced pluripotent stem cells and high throughput assay systems, will contribute to the workshop from both the basic and clinical perspectives. A highlight of the 2010 workshop will be the discussion of farnesylation inhibitors as treatment for Progeria animal models and in humans, including presentation of results from the first completed HGPS clinical trial. We will provide an open forum for discussing essential directions for Progeria research, fostering collaborative scientific efforts, discussing specific funding needs for the field from sources such as PRF and NIH, and providing updates on infrastructural programs that aid the scientific and medical communities such as the Progeria patient registry, cell and tissue bank, clinical and research database, and diagnostics facility. The recent history of Progeria research is a model for translational medicine. Years of basic study into lamin A has allowed the field to blossom with promise, as the biologically based treatment trials for Progeria ensue. The 2010 Workshop will bring basic and clinical scientists together once again, to plan the coming years of discovery into Progeria, lamin biology, heart disease, and cellular aging. PUBLIC HEALTH RELEVANCE: Scientific workshops on Hutchinson Gilford Progeria Syndrome (Progeria) and related Progerias, co-sponsored by PRF and NIH, have been key in developing the Progeria research agenda over the past 8 years. Cutting edge research since the last Workshop in 2007 has confirmed and strengthened Progeria as a unique model for investigating many aspects of heart disease in the normal aging population. The 2010 workshop will unveil results from the first-ever clinical treatment trial for children with Progeria, and will continue to foster collaborations between basic and clinical research scientists in an effort to bring bench science to the bedside for progeria, and for the general aging population.