FaceBase Management and Coordination Hub

描述（由申请人提供）：成像，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面部发育提供了独特的机会。涉及面中部的裂缝，特别是唇和腭的裂缝是最常见的出生缺陷之一，并为受影响的个体带来终身挑战。这些问题包括重复手术，以及言语，行为，牙齿和长期健康问题，如癌症风险增加和认知发育延迟。我们已经组建了一个由致力于和经验丰富的颅面研究人员，加上生物信息学和计算机科学专家组成的团队，以开发一个Face Base Hub，以促进与面部发育相关的研究，临床和教育活动。我们的Face Base团队由多年来合作良好的合作者组成，他们为中心带来了意义深远的互补专业知识。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（如基因型，序列数据，表达数据，面部图像和其他表型）的广泛数据库，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，并有机会实时更新唇腭裂研究和临床方面的信息。它将包括教育和生物储存活动，这将提高临床和公众对面部研究的理解和参与。我们将建立在现有的生物信息学基础设施上，可以采用人脸库，利用与CaBIG，UCSC基因组浏览器和维基百科等计划的合作伙伴关系。其结果将是快速推进颅面研究的能力显着增加，新的教育和推广活动，以提高公众和专业人士对面中部缺陷的认识，以及在其他牙科和颅面疾病中扩大这些活动的未来模式。 公共卫生相关性：Face Base Hub将提供一个共同的地方，将涉及唇腭裂的研究和临床社区聚集在一起。它将使科学家们能够在发表之前就轻松获得信息，以培养在研究这些重要的出生缺陷方面的共同目标感。该中心还将提供临床更新和教育材料，供家庭和研究人员使用。

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.