Planning grant: Columbia-Yale-Bilkent Study: Genetic Study of Essential Tremor

描述：这是一个研究开发/规划资助申请，以启动合作研究 与土耳其比尔肯特大学的研究人员一起研究特发性震颤的遗传学。特发性震颤 (ET)是最常见的神经系统疾病之一，据估计， 美国的ET最典型的临床特征是手或手臂的运动性震颤， 在疾病的早期是轻微的。随着疾病的进展，震颤变得更加严重， 解剖学上广泛分布的（例如，头部、躯干）。除了震颤，ET患者还可能出现其他 包括步态共济失调的运动特征。非运动特征可以包括精神病表现、认知障碍、 衰退和痴呆。尽管其发病率非常高，但ET的遗传原因主要是 未知我们建议在土耳其开展一项针对近亲家庭的ET遗传研究。 土耳其约有7000万人口，近亲结婚率很高。率 据估计，血缘关系高达20-25%，大约70%的血缘关系 第一代表兄妹的婚姻研究土耳其人口中ET的遗传学，特别是在大 近亲家庭可能会发现ET的新遗传原因，这些原因也与ET人群相关， 美国和全世界。我们的合作者，博士们， Ozcelik和Tekinay在人类遗传学和功能研究方面的专业知识， 大血缘ET家庭的资源。这项规划补助金的具体目的是：（1）进一步 发展和巩固与比尔肯特团队的合作，并确定研究的范围， R 01应用程序的重点;（2）评估Bilkent团队的资源和需求，以便成功地 进行研究;（3）在美国和土耳其团体之间进行交叉培训， 人类遗传学，遗传流行病学和危险因素评估，基因组学，临床诊断，功能 研究和个性化基因组医学;以及（4）进行试点研究以生成初步数据 对于R 01应用程序来说是必要的。

DESCRIPTION: This is a research development/planning grant application to initiate collaborative studies with investigators at Bilkent University in Turkey to study the genetics of Essential Tremor. Essential Tremor (ET) is one of the most common neurological diseases, with an estimated 7 million affected individuals in the United States. The most characteristic clinical feature of ET is a kinetic tremor in the hands or arms, which early in the disease process is mild. As the disease progresses, tremor becomes more severe and more anatomically widespread (e.g., head, trunk). Aside from tremor, patients with ET may also present with other motor features including gait ataxia. Non-motor features can include psychiatric manifestations, cognitive decline and dementia. Despite its extraordinarily high prevalence the genetic causes of ET are largely unknown. We propose to develop a genetic study of ET focusing on consanguineous families in Turkey. Turkey with a population of about 70 million has a high rate of consanguineous marriages. The rate of consanguinity is estimated to be as much as 20-25% with approximately 70% of all consanguineous marriages involving first cousins. Studying the genetics of ET in the Turkish population, particularly in large consanguineous families may identify novel genetic causes of ET that are also relevant to ET populations in the US and worldwide. The proposed research has a high probability of success with our collaborators, Drs Ozcelik and Tekinay's expertise in human genetics and functional studies together with an established resource of large consanguineous ET families. The specific aims of this planning grant are to: (1) further develop and solidify collaborations with the team in Bilkent and define the scope of the research that will be the focus of an R01 application; (2) assess the Bilkent team's resources and needs in order to successfully conduct the research; (3) implement cross-training between the U.S. and Turkish groups in the areas of human genetics, genetic epidemiology and risk factor assessment, genomics, clinical diagnosis, functional studies and personalized genomic medicine; and (4) conduct pilot studies to generate preliminary data necessary for an R01 application.