GENETICS OF AFFECTIVE DISORDERS

这是对ADAMHA RSDA(II级)的申请。《博大》 这项建议的目的是促进和维持 申请者作为精神病学职业科学家的发展 遗传学。以任期内积累的经验为基础 在I级区域可持续发展评估中，这一目标将在 以下方式：(A)研究计划；最近在以下方面的进展 统计学和分子遗传学，并在诊断概念中 精神疾病，有很大的希望解开基因 情感性疾病亚型背后的机制。这个，在 反过来，将对病因学、病因学、 病理生理学以及可能的预防和治疗 精神错乱。利用连锁寻找特定的基因标记 分析技术，被认为是人类一种强大的策略 遗传学。因此，这项研究的目的是：(一) 利用DNA标记对双相情感障碍家系进行连锁研究 情感先驱；(2)是否应建立联系，以 描述临床/生物学上遗传相关病例的特征 措施，以尝试定义 无序。长期目标将包括评估关联 作为风险预测指标的标记以及本地化和 缺陷基因的特征。这种可能性 在精神分裂症研究中使用链接策略将 也是被探索的。(B)发展和专业成长； 在进行这项研究期间将获得的经验将 促进申请者的科学成长。此外，还进一步 基因标记培训与会商协作相结合 研究(分子遗传学)和遗传分析方法 将寻求，目的是完善和推进 申请人的科学知识。在一些地方进行专业培训 将考虑这些领域的各个方面。

This is a request for an ADAMHA RSDA (Level II). The broad objective of this proposal is to facilitate and sustain the Applicant's development as a career scientist in psychiatric genetics. Building upon the experience gained during the tenure of the Level I RSDA, this objective will be attained in the following manner: (a) Research Plans; Recent advances in statistical and molecular genetics, and in diagnostic concepts of mental illness, hold much promise for unraveling the genetic mechanisms that underlie subtypes of affective illness. This, in turn, would have major implications for the etiology, nosology, pathophysiology and, possibly, prevention and treatment of these disorders. The search for specific gene markers, using linkage analysis techniques, is considered a powerful strategy in human genetics. Accordingly, the aims of this research are: (i) To perform linkage studies with DNA markers in pedigrees of bipolar affective probands; (ii) Should linkage be established, to characterize the genetically linked cases on clinical/biological measures in an attempt to define homogeneous subsets of the disorder. Long range goals will include the assessment of linked markers as risk predictors and the localization and characterization of the defective gene (or genes). The possibility of employing the linkage strategy in schizophrenia research will also be explored. (b) Development and Professional Growth; The experience to be gained during the conduct of this research will foster the Applicant's scientific growth. In addition, further training coupled with consultation and collaboration on gene marker research (molecular genetics) and on methods of genetic analysis will be sought, with the aim of refining and advancing the Applicant's scientific knowledge. Specialized training in some aspects of these areas will be considered.