GENETICS OF AFFECTIVE DISORDERS

这是对ADAMHA RSDA（二级）的请求。 广大 本提案的目的是促进和维持 申请人作为精神科职业科学家的发展 遗传学 在任期内取得的经验的基础上 在一级RSDA中，这一目标将在 （a）研究计划; 统计学和分子遗传学，并在诊断概念， 精神疾病，有希望解开遗传 情感疾病亚型的基础机制。 而这 反过来，将对病因学，疾病分类学， 病理生理学，以及可能的预防和治疗这些 紊乱 寻找特定的基因标记，使用连锁 分析技术，被认为是一个强大的战略，在人类 遗传学 因此，本研究的目的是：（一） 在双相情感障碍家系中进行DNA标记的连锁研究 （二）如果建立联系， 在临床/生物学上描述遗传相关病例 措施，试图定义同质子集的 disorder. 长期目标将包括评估相关的 标记物作为风险预测因子， 缺陷基因（或多个基因）的表征。 的可能性 在精神分裂症研究中采用连锁策略将 也可以探索。 (b)发展与专业成长 在进行这项研究期间获得的经验将 促进申请人的科学成长。 此外，进一步 基因标记的培训、咨询和合作 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。 在一些国家进行专门培训 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.