FACILITATING THE DIAGNOSIS OF ANGELMAN SYNDROME

Angelman项目是一个视频，文本和照片的综合数字数据库，收集和设计用于促进Angelman综合征（AS）研究的诊断，治疗和教育，包括遗传学，神经学以及语言和行为的研究。 即使有了这些进步，诊断和治疗仍然受到缺乏关于退出Angelman患者的信息的阻碍。 目前的数据AS个人需要说明他们的外观的主要特点，以及他们的行为和能力的基本方面。 Angelman项目中包含的全面数据收集为医学专业人员，科学家，教育工作者和治疗师提供了资源。 例如，物理治疗师可以观察世界其他地区的患者治疗模式。 教育工作者可以使用各种包容性设置的视频片段来帮助制定和塑造个性化的教育计划。遗传学家可以检查来自该数据库的信息，以找到可能的基因型/表型相关性。 该数据库提供信息，以帮助更及时的诊断;提供有关疗法和治疗的信息;并收集可能激发未来AS研究项目的原始数据。拟定商业应用：这项工作的预期市场包括与Angelman综合征患者儿科医生，内科医生和全科医生，遗传学顾问，神经学家，心理学家，物理治疗师和护士一起工作的所有专业人员。 这项工作应该是遗传学，神经学和其他相关领域的研究人员的宝贵资源。最后，教育工作者和教育评估，以及与AS个体和其他相关疾病的教师合作，将发现这项工作是一个很好的参考。 未来的商业III期应用存在于该项目的扩展中，以包括许多其他遗传疾病。

The Angelman Project is a comprehensive digital database of videos, text, and photographs, collected and designed to facilitate the diagnosis, treatment and education of individuals with Angelman Syndrome (AS) research, including genetics, neurology, and the study of language and behavior. Even with these advances, diagnosis and treatment are hampered by a lack of information on exiting Angelman patients. Current data on AS individuals is needed to illustrate the main features of their appearance, as well as the essential aspects of their behaviors and abilities. The comprehensive collection of data contained in The Angelman Project provides a resource for medical professionals, scientists, educators, and therapists. For example, physical therapists can observe models of patient therapy practiced in other parts of the world. Educators can use video footage of various inclusion settings to help develop and shape individualized education plans. Geneticists can examine the information from this database to find possible genotype/phenotype correlations. This database provides information to help make more timely diagnoses; offers information on therapies and treatments; and furnishes raw data that may inspire future AS research projects. PROPOSED COMMERCIAL APPLICATION: The intended market for this work includes all professionals working with Angelman syndrome patients pediatricians, internists and general practitioners, genetics counselors, neurologists, psychologists, physical therapists, & nurses. The work should be a valuable resource for researchers in genetics, neurology and other related areas. Finally, educators and education evaluations, and teachers working with AS individuals and others with related disorders, will find this work an excellent reference. Future commercial Phase III applications exist in the expansion of this project to include many other genetic disorders.