DEFINING CASENESS FOR PSYCHIATRIC LINKAGE STUDIES

定义精神病学关联研究的案例

• 批准号: 2430887
• 负责人: Deborah L. BLACKER
• 金额: $ 11.03万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 1993
• 资助国家: 美国
• 起止时间: 1993-09-01 至 1999-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2430887
• 关键词: Alzheimer's disease; bipolar depression; clinical depression; computer simulation; disease /disorder classification; family genetics; genetic mapping; human subject; linkage mapping; mental disorder diagnosis; mental disorders; mental health epidemiology; neuropsychology; psychological models; psychometrics; siblings; training

This is a request for an NIMH Scientist Development Award (K-21) entitled "Defining Caseness for Psychiatric Linkage Studies." The Candidate's primary interest is in the genetic epidemiology of neuropsychiatric disorders. A fundamental problem for psychiatric genetics is the definition of the phenotype. The candidate's training as a psychiatrist and epidemiologist focussed on bipolar disorder drew her attention to this issue, and her recent work on the genetics of Alzheimer's disease put it in a new light. It became clear that her existing skills limited her to a psychiatric, mainly categorical approach to diagnosis, and a mostly conceptual approach to genetics. Thus, support for additional training is requested to allow her to delve much deeper into the diagnosis of Alzheimer's disease and other dementing disorders, and to study psychometric and other techniques for delineating and describing pathology. Support is also requested to allow her to develop a more technical understanding of genetics including modelling, simulations, and linkage analysis. The research project designed to complement this training involves the development of a measure of certainty or caseness for classification of ambiguous phenotypes in psychiatric linkage studies. The project includes constructing a caseness index, cross-validating the index, and testing its ability to improve the power of linkage analysis. It involves work on two different classification problems: differentiating Alzheimer's disease from other dementing illnesses, and delineating which unipolar relatives ought to be considered bipolar for purposes of bipolar linkage studies. In addition to its pedagogic value, work on two disorders side by side may contribute to methods generalizable to other disorders. This integrated combination of training and research will serve to foster the Candidate's development as a clinical investigator interested in the complex relationship of nosology and genetic investigation of psychiatric disorders.

这是 NIMH 科学家发展奖 (K-21) 的申请，标题为 “定义精神病学联系研究的案例性。”这 候选人的主要兴趣是遗传流行病学 神经精神疾病。 精神科的一个根本问题 遗传学是表型的定义。 候选人的培训为 一位专注于双相情感障碍的精神病学家和流行病学家吸引了她 对这个问题的关注，以及她最近在遗传学方面的工作 阿尔茨海默病让人们对它有了新的认识。 很明显，她 现有的技能限制了她只能采用精神病学的、主要是分类的方法 诊断，以及主要是概念性的遗传学方法。 因此，支持 要求进行额外的培训，以便她能够更深入地研究 进入阿尔茨海默病和其他痴呆症的诊断， 并研究心理测量学和其他技术来描绘和 描述病理学。 还请求支持，让她能够发展 对遗传学的更技术性的理解，包括建模， 模拟和连锁分析。 旨在补充该培训的研究项目涉及 制定确定性或案例性的衡量标准以进行分类 精神病学连锁研究中模糊的表型。 该项目包括 构建案例索引，交叉验证索引并测试其 提高连锁分析能力的能力。 它涉及两方面的工作 不同的分类问题：区分阿尔茨海默病 与其他精神错乱疾病有关，并描述哪些单相亲属 出于双极连锁研究的目的，应将其视为双极。 除了其教学价值外，同时研究两种疾病可能会 有助于推广适用于其他疾病的方法。 这个集成的 培训和研究的结合将有助于培养候选人的 作为一名对复杂问题感兴趣的临床研究者的发展 精神病学与遗传学研究的关系 失调。