DEFINING CASENESS FOR PSYCHIATRIC LINKAGE STUDIES

定义精神病学关联研究的案例

• 批准号: 2240548
• 负责人: Deborah L. BLACKER
• 金额: $ 10.74万
• 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 1998-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2240548
• 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）的要求 “定义精神病学研究的估计。”这 候选人的主要兴趣是 神经精神疾病。 精神病的基本问题 遗传学是表型的定义。 候选人的培训 精神科医生和流行病学家专注于躁郁症，吸引了她 对这个问题的关注以及她最近对遗传学的工作 阿尔茨海默氏病在新的眼中。 很明显她 现有技能将她限制为精神病，主要是绝对的方法 诊断，是遗传学的主要概念方法。 因此，支持 要求进行其他培训，以使她更深入地研究 进入阿尔茨海默氏病和其他痴呆症的诊断， 并研究划定和其他技术的心理测量和其他技术 描述病理学。 还要求支持她的发展 对遗传学的更技术理解，包括建模， 模拟和链接分析。 旨在补充此培训的研究项目涉及 开发确定性或估计性的分类 精神病学研究中的模棱两可的表型。 该项目包括 构建轮轴指数，交叉验证索引并测试其 提高连锁分析的力量的能力。 它涉及两个工作 不同的分类问题：区分阿尔茨海默氏病 来自其他痴呆疾病，并描述哪些单极亲戚 出于双极连锁研究的目的，应该被视为双极性。 除了其教学价值外，还可以并排工作两个疾病 有助于可以推广到其他疾病的方法。 这整合了 培训和研究的结合将有助于培养候选人的 作为对该综合体感兴趣的临床研究者的发展 牙齿学和精神病的遗传研究的关系 疾病。