FACILITATING THE DIAGNOSIS OF ANGELMAN SYNDROME

促进天使综合症的诊断

• 批准号: 6554366
• 负责人: Louise Mary Tiranoff
• 金额: $ 5万
• 依托单位: TIRANOFF PRODUCTIONS, LLC
• 依托单位国家: 美国
• 财政年份: 1995
• 资助国家: 美国
• 起止时间: 1995-02-14 至 2002-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6554366
• 关键词: DVD /CD ROM; biomedical resource; computer assisted instruction; computer system design /evaluation; diagnosis design /evaluation; education evaluation /planning; genetic disorder diagnosis; happy puppet syndrome; informatics; information systems; interactive multimedia; mental disorder diagnosis; therapy

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.

Angelman Project是一个全面的视频，文本和照片的数字数据库，旨在促进Angelman综合征（AS）研究人员（包括遗传学，神经病学以及语言和行为研究）的诊断，治疗和教育。 即使有这些进步，诊断和治疗也因缺乏退出安吉尔曼患者的信息而受到阻碍。 当前的数据是个人的，以说明其外观的主要特征以及其行为和能力的基本方面。 Angelman项目中包含的数据的全面收集为医疗专业人员，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到世界其他地区实践的患者治疗模型。 教育工作者可以使用各种包容设置的录像带来帮助制定和塑造个性化的教育计划。遗传学家可以检查该数据库的信息，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诊断；提供有关疗法和治疗的信息；并提供可能会激发未来研究项目的原始数据。拟议的商业应用程序：这项工作的预期市场包括所有与Angelman综合症患者，儿科医生，内科医生和全科医生，遗传学顾问，神经科医生，心理学家，物理治疗师和护士一起工作的专业人员。 这项工作应该是研究人员在遗传学，神经病学和其他相关领域的宝贵资源。最后，教育者和教育评估，以及与个人和其他患有相关疾病的人一起工作的教师，将发现这项工作是一个很好的参考。 未来的商业III阶段应用程序在该项目的扩展中存在，以包括许多其他遗传疾病。