This Program Project is a multidisciplinary investigation into the clinical, genetic, morphologic, biochemical and molecular characteristics of skeletal dysplasias. The goals ofthis research include defining the clinical and genetic heterogeneity among these disorders, understanding the biochemical, molecular and pathogenetic mechanisms operative in each of them, ultimately improving clinical care and outcomes. This project has benefited from continuous funding by NICHD for over 40 years and has been highly productive in defining the clinical aspects ofthese syndromes, their pathogenesis and their biochemical and molecular bases. The International Skeletal Dysplasia Registry, the largest such repository/database in the worid, serves as an international resource for studying the osteochondrodysplasias and dysostoses. This includes providing diagnostic assistance to a woridwide group of referring health professionals and serving as a source of materials from clinically documented cases for a wide range of research projects directed toward understanding the biological basis of these conditions. The current five-year renewal extends from 5/1/07-4/30/12. Cedars-Sinai Medical Center has strongly supported this project since 1986 with the provision of laboratory space, office space, computers and laboratory equipment, and significant cost sharing for salary support of the investigators and personnel working on the project. They will further support the work proposed in this competitive revision by providing their web development team to immediately start designing and developing a phase 1 prototype to facilitate and validate the system requirements and design concept. This 22 month competitive revision application is directed toward the enhancement and improvement of the International Skeletal Dysplasia Registry Database (Core A) which is utilized extensively by all the projects. Previous reviews ofthis Program Project have stated, """"""""The core is an international resource of immense importance and potential. It offers both a diagnostic function and a source of rare and valuable tissues for research. Its value has been proven over the years, but its potential is still yet to be fully tapped. A^at is needed is easier web-based description of available materials."""""""" There are many aspects of Core A that need improvement, including online case submission. One obvious reason to improve case submission is to advance the clinical diagnostic aspect of the Registry's function;"""""""" The clinical utility of the Registry is immense but inappropriately slow. A more expedient service would greatly improve the case submission rate from clinicians so far underrepresented in the donor pool."""""""" The overall goals ofthis competitive revision application are directed toward the enhancement and improvement ofthe International Skeletal Dysplasia Registry Database to maximize its utility, research potential and ability to accelerate the recruitment of appropriate study subjects and to create an online skeletal dysplasia diagnostic teaching tool to provide research investigators, clinicians and students with online access to information on the clinical, radiographic and morphologic presentation of typical skeletal dysplasia cases derived from the vast archive of cases studied over the last 40 years. It addresses each of the comments raised by the review panel as well as improving the Program Project's search and navigation capabilities and developing a web based diagnostic and teaching tool available to the public. We are frequently requested to consult with other disease-based research and clinical trial groups on how to devise a genetic disorder registry. The development of this new web based registry can serve as a model for many other groups to develop similar registries for their own disease specific interests, accelerating the work done by many other groups of investigators.
Showing the most recent 10 out of 365 publications
