FaceBase Management and Coordination Hub

描述（由申请人提供）：影像学、基因组技术、亚临床表型、胚胎学和其他研究学科的进步为更好地了解中脸发育提供了独特的机会。唇腭裂发生在脸部中部，尤其是唇腭裂，是最常见的先天缺陷之一，对受影响的人来说，这是一生的挑战。这些担忧包括反复手术，以及语言、行为、牙齿和长期健康问题，如癌症风险增加和认知发育迟缓。我们已经组建了一个致力于和经验丰富的颅面研究人员团队，加上生物信息学和计算机科学专家，开发一个面部基础中心，将促进与面部发育相关的研究，临床和教育活动。我们的Face Base团队由合作多年的合作者组成，他们为Hub带来了深远而互补的专业知识。我们的中心将提供一个Face Base门户网站，访问人类和动物模型数据的广泛数据库（如基因型、序列数据、表达数据、面部图像和其他表型），以及一套全面的基于网络的工具，以增加研究机会。它将专注于整合来自不同来源和模型的数据，并促进唇腭裂的转化研究。该中心将为研究人员提供一个论坛，并有机会实时更新有关唇腭裂研究和临床方面的信息。它将包括教育和生物存储活动，以提高临床和公众对面部研究的理解和参与。我们将利用与CaBIG、UCSC基因组浏览器和维基百科等项目的合作，在现有的生物信息基础设施的基础上进行构建，这些基础设施可以用于Face Base。结果将显著提高快速推进颅面研究的能力，新的教育和推广活动，以提高公众和专业人员对中脸缺陷的认识，并将这些活动扩展到其他牙科和颅面疾病的未来模式。

DESCRIPTION (provided by applicant): Advances in imaging, genome technology, subclinical phenotyping, embryology and other investigative disciplines have provided unique opportunities for developing a better understanding of mid-face development. Clefts that involve the mid-face, in particular those of the lip and the palate are among the most common birth defects and create life-long challenges for affected individuals. These concerns include repeated surgeries, as well as speech, behavior, dental and long-term health issues such as increased risks for cancer and delayed cognitive development. We have assembled a team of committed and experienced craniofacial researchers, plus experts in bioinformatics and computer science, to develop a Face Base Hub that will facilitate research, clinical, and educational activities related to facial development. Our Face Base team consists of collaborators who have worked well together for many years and who bring far-reaching and complementary expertise to the Hub. Our Hub will provide a Face Base web portal, access to extensive databases of both human and animal model data (such as genotypes, sequence data, expression data, facial images and other phenotypes) and a comprehensive set of web-based tools to enhance research opportunities. It will focus on integrating data from diverse sources and models, and to foster translational research in cleft lip and palate. The Hub will provide a forum for connecting investigators, and opportunities to maintain updated information in real-time on research and clinical aspects of cleft lip and palate. It will include educational and biorepository activities that will enhance clinical and public understanding of, and involvement in, facial research. We will build on existing bioinformatic infrastructures that can be adopted for Face Base, utilizing partnerships with such programs as CaBIG, the UCSC genome-browser, and Wikipedia. The outcome will be a significant increase in the ability to rapidly advance craniofacial research, new educational and outreach activities to enhance public and professional awareness of mid-face defects and a future model for broadening these activities across other dental and craniofacial disorders. PUBLIC HEALTH RELEVANCE: The Face Base Hub will provide a common place to bring together the research and clinical communities involved with cleft lip and palate. It will enable scientists to have easily accessible information even before it is published to foster a sense of common purpose in working on these important birth defects. The Hub will also provide clinical updates and educational materials accessible to families and to researchers.