Genetics of Common Heritable Disorders in Venezuela

描述（由申请人提供）：拟议的研究培训计划的目标是加强苏利亚大学委内瑞拉科学家的能力，以研究与拉丁美洲和加勒比地区，特别是委内瑞拉有关的常见遗传性疾病的遗传学。该战略旨在通过以下方式加强苏利亚大学目前的研究和培训方案：（1）在现代遗传/基因组研究的设计和实施方面培训足够数量的科学家和工程师（2）促进苏利亚大学发展研究和培训基础设施，该基础设施将利用并集中委内瑞拉西部的临床和科学专业知识（3）通过与哥伦比亚大学研究人员建立合作网络，维持苏利亚大学的研究和培训计划，研究最常见的复杂遗传性疾病的遗传基础。拟议的培训计划旨在利用哥伦比亚大学目前的遗传和基因组研究计划，这些计划与苏利亚大学的常见遗传性神经退行性疾病的重点主题重叠。该培训计划旨在教育人类遗传学的博士生和博士后研究员，包括遗传流行病学，群体遗传学，分子遗传学，临床遗传学，统计遗传学和生物信息学，对与人类遗传学研究相关的伦理，法律的和社会问题有广泛的了解。该计划的教学部分包括一系列的学术课程，研讨会和实验室轮换。在研究部分，每个研究员将与导师密切合作，进行研究员选择的独立研究项目，并与他/她未来在委内瑞拉的研究有关。此外，研究员将接触到低成本诊断方法的开发过程，这些方法可能有助于识别神经退行性疾病，并制定预防或改善治疗方案。在计划结束时，研究员应了解与复杂疾病位点检测相关的研究设计，方法学以及遗传和流行病学理论的关键方面，并具体解决遗传因素与环境和文化因素的相互作用。重点将放在确定易处理的遗传目标和建立富有成效的合作。

DESCRIPTION (provided by applicant): The goal of the proposed research-training program is to strengthen the capacity of Venezuelan scientists based at the University of Zulia to study genetics of common hereditable disorders relevant to Latin America and the Caribbean, and in particular to Venezuela. The strategy is to enhance the current research and training programs at the University of Zulia by: (1) training a critical mass of scientists and engineers in the design and conduct of modern genetic/genomic research (2) facilitating the development of a research and training infrastructure at the University of Zulia that will draw upon and focus clinical and scientific expertise throughout Western Venezuela (3) sustaining the research and training programs at the University of Zulia by establishing collaborative networks with Columbia University researchers studying the genetic basis of the most common complex hereditable disorders. The proposed training program seeks to capitalize upon current genetic and genomic research programs at Columbia University that overlap thematically with the focus on common heritable neurodegenerative disorders at the University of Zulia. The training program is designed to educate doctoral students and postdoctoral fellows in human genetics, including genetic epidemiology, population genetics, molecular genetics, clinical genetics, statistical genetics and bioinformatics, with a broad understanding on the ethical, legal and social issues related to human genetics research. The didactic component of the program includes a series of academic courses, seminars and laboratory rotations. In the research component each Fellow will work closely with a Preceptor on an independent research project of the Fellow's choosing and that is related to his/her future research in Venezuela. In addition Fellows will be exposed to the process of development of low-cost diagnostic methods that may facilitate the recognition of neurodegenerative disorders and the development of preventive or ameliorative treatment options. At the end of the program Fellows should understand the critical aspects of study design, methodology, and genetic and epidemiological theory relevant to the detection of complex disease loci and to specifically address the interaction of genetic factors with environmental and cultural factors. Emphasis will be given to defining tractable genetic targets and building productive collaborations.