International Conference for Ectodermal Dysplasias Classification

国际外胚层发育不良分类会议

• 批准号: 8399225
• 负责人: Carlos F Salinas
• 金额: $ 3万
• 依托单位: MEDICAL UNIVERSITY OF SOUTH CAROLINA
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-07-11 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8399225
• 关键词: Adhesions; Affect; Area; Bioinformatics; Cell physiology; Cells; Classification; Classification Scheme; Clinical; Complex; Complication; Consensus; Coupled; Databases; Development; Diagnosis; Disease; Ectoderm; Ectodermal Dysplasia; Educational workshop; Embryo; Fingerprint; Fostering; Foundations; Genes; Genetic; Genetic Counseling; Goals; Grant; Hair; Hereditary Disease; Human Genome; International; Internet; Knowledge; Modeling; Molecular; Molecular Genetics; Nail plate; National Institute of Dental and Craniofacial Research; Participant; Pathway interactions; Phenotype; Process; Proteins; Publishing; Research; Research Personnel; Scientist; Signal Transduction; Subgroup; Sweat; Sweating; Syndrome; System; Time; Tooth structure; Transcriptional Regulation; Update; base; clinical phenotype; gene function; interest; novel strategies; patient registry; symposium; tool

DESCRIPTION (provided by applicant): Ectodermal dysplasias are a heterogeneous group of heritable disorders characterized by abnormalities of the embryonic ectoderm. Controversy exists over which syndromes should be classified as ectodermal dysplasias and which should be excluded from the classification. Freire-Maia offered the first clinical classification of ectodermal dysplasias [1]. He based his classification on the observed clinical phenotype affecting mainly the hair, teeth, sweat pores and nails. According to this classification there are over 170 conditions that could be considered an ectodermal dysplasias. With the rapid advancement in the study of the human genome, new approaches for classifications for ectodermal dysplasias have been proposed. Priolo [2] proposed a classification integrating molecular genetics and clinical aspects. However, Priolo's classification, as well as that of Freire-Maia, has the complication that when applied strictly several additional groups of diseases should be included under the term ectodermal dysplasias. Lamartine [3] has proposed a classification based on causative genes function. This classification considered four subgroups: cell-cell communication and signalling, adhesion, transcription regulations, and development. The study of the human genome has accelerated the knowledge of cell function, making this an appropriate time to host an international conference of experts to update, transfer, and disseminate a new classification for ectodermal dysplasias. The conference proposal aims to generate a consensus to develop a modern classification for ED due in part to the recent advances in molecular genetics. The clinical and molecular knowledge will be integrated by using an interactive internet based database that can be accessed by clinicians and scientists. This can be accomplished using a multi-axis system approach to include a Clinical/ Phenotype axis, a Gene based axis, and a Functional/ Pathways axis. The significance of the conference results are two-fold, a new classification will foster a better understanding of ectodermal dysplasias and will also open up new fields of research. This approach may also end up serving as a model for the classification of other complex disorders. PUBLIC HEALTH RELEVANCE: The study of the human genome has accelerated the knowledge of gene identification and function making this an appropriate time to host an international conference of experts to review, update, transfer, and disseminate a modern classification for ectodermal dysplasias. The conference proposal aims to analyze present classifications in order to generate a consensus to develop a new modern classification system, due in part to the recent advances resulting from the integration of molecular genetics and clinical knowledge. The significance of the conference results are two-fold. Foremost, a new classification which will foster a better understanding of ectodermal dysplasias and result in a better diagnosis, treatment approach and genetic counseling. Secondly, the conference will foster further interest in not only this area of research but potentially serve as a model for othe complex disorders as well.

描述（由申请人提供）：外胚层发育不良是一组异质性遗传性疾病，其特征为胚胎外胚层异常。关于哪些综合征应归类为外胚层发育不良，哪些应排除在分类之外，存在争议。Freire-Maia提出了外胚层发育不良的第一个临床分类[1]。他的分类基于观察到的主要影响头发、牙齿、毛孔和指甲的临床表型。根据这一分类， 超过170种情况可以被认为是外胚层发育不良。随着人类基因组研究的快速发展，外胚层发育不良的分类方法也不断提出。Priolo [2]提出了一种整合分子遗传学和临床方面的分类。然而，Priolo的分类，以及Freire-Maia的分类，有一个复杂的问题，即当严格应用时，外胚层发育不良一词应包括几组额外的疾病。Lamartine [3]提出了基于致病基因功能的分类。该分类考虑了四个亚组：细胞间通讯和信号传导、粘附、转录调节和发育。人类基因组的研究加速了对细胞功能的认识，这使得举办一次国际专家会议以更新、转让和传播外胚层发育不良的新分类成为一个适当的时机。会议提案的目的是产生一个共识，以发展一个现代分类的艾德部分由于最近的进展，在分子遗传学。临床和分子知识将通过使用一个基于互联网的交互式数据库进行整合，该数据库可供临床医生和科学家访问。这可以使用多轴系统方法来完成，包括临床/表型轴、基于基因的轴和功能/途径轴。会议结果的意义是双重的，一个新的分类将促进更好地了解外胚层发育不良，也将开辟新的研究领域。这种方法最终也可能成为其他复杂疾病分类的模型。 公共卫生关系：人类基因组的研究加速了基因识别和功能的知识，使这是一个适当的时间主办一个国际专家会议，审查，更新，转让和传播外胚层发育不良的现代分类。会议提案旨在分析目前的分类，以形成共识，开发一个新的现代分类系统，部分原因是分子遗传学和临床知识的整合所带来的最新进展。会议结果的意义是双重的。最重要的是，一个新的分类，这将促进更好地了解外胚层发育不良，并导致更好的诊断，治疗方法和遗传咨询。第二，会议将促进进一步的兴趣，不仅在这一领域的研究，但可能作为一个模型，为其他复杂的疾病以及。