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

规划资助：哥伦比亚-耶鲁-比尔肯特研究：特发性震颤的遗传学研究

基本信息

批准号：
9338336
负责人：
LORRAINE N CLARK
金额：
$ 18.4万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-09-01 至 2019-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9338336
关键词：
Academic Medical Centers Address Affect Anatomy Animals Applications Grants Area Candidate Disease Gene Characteristics Clinical Collaborations Consanguinity DNA Data Dementia Development Development Plans Diagnostic Disabled Persons Disease Enrollment Epidemiology Equilibrium Essential Tremor Exhibits Family Family Study Future Gait Gait Ataxia Genes Genetic Genetic Models Genetic study Genomics Goals Grant Hand Head Health High Prevalence Human Human Genetics Human Inbreeding Impaired cognition Individual Institution Intention Tremor Intervention Investments Kinetics Longevity Measures Meleagris gallopavo Molecular Motor Movement Neurologic Examination Pathogenesis Pathogenicity Pathway interactions Patients Pharmaceutical Preparations Pilot Projects Population Predisposition Probability Procedures Process Public Health Schools Regulation Research Research Methodology Research Personnel Research Support Research Training Resources Role Safety Sampling Scientist Standardization Training Training Programs Training and Infrastructure Tremor United States Universities Variant Videotape Voice arm base brain health clinical Diagnosis clinical phenotype consanguineous family epidemiology study experience genetic analysis genetic epidemiology genetic risk factor genome sequencing medical schools nervous system disorder novel personalized genomic medicine programs research and development success targeted treatment therapeutic development whole genome

项目摘要

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.

描述：这是一项研究开发/规划拨款申请，旨在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，估计有 700 万人受到影响。美国。 ET 最典型的临床特征是手或手臂的动力性震颤，疾病过程的早期是轻微的。随着病情的进展，震颤会变得更加严重、更加严重。解剖学上广泛分布（例如头部、躯干）。除了震颤外，ET 患者还可能出现其他症状运动特征包括步态共济失调。非运动特征可包括精神症状、认知症状衰退和痴呆。尽管 ET 的患病率非常高，但 ET 的遗传原因主要是未知。我们建议开展一项针对土耳其近亲家庭的 ET 遗传学研究。土耳其人口约7000万，近亲结婚率很高。的比率据估计，近亲结婚率高达 20-25%，其中近 70% 是近亲结婚涉及堂兄弟姐妹的婚姻。研究土耳其人群中的 ET 遗传学，特别是在大型人群中近亲家庭可能会发现新的 ET 遗传原因，这些原因也与 ET 群体相关。美国和全世界。我们的合作者 Drs 提出的研究很有可能成功 Ozcelik 和 Tekinay 在人类遗传学和功能研究方面的专业知识以及已建立的大型近亲 ET 家族的资源。本次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，并确定将要进行的研究范围 R01申请的重点； (2) 评估 Bilkent 团队的资源和需求，以便成功进行研究； (3) 在美国和土耳其团体之间实施以下领域的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； (4) 进行试点研究以生成初步数据 R01 应用程序所必需的。