Genetics Training Program: Implications of Variation

描述：（由申请人提供）人类遗传学已成为生物学和医学的主导力量。遗传学的主导地位源于它在解释生命的最基本奥秘方面的核心重要性，以及它在生物学几乎每个领域阐明正常和紊乱基因表达的功能和机制的一整套方法。一个显著的变化正在发生，从曾经完全不同的子领域（如分子遗传学、群体遗传学和人类遗传学）产生的信息和发现，现在正在催生遗传学和生物学其他领域的新发展。事实上，随着研究人员利用多种方法和多种模式生物，遗传子领域的身份正在迅速受到侵蚀。因此，我们有责任更广泛地培养研究生，以利用这种发展中的协同作用。遗传学还包含特殊而重要的社会、伦理和政治含义。同样至关重要的是，学生学习遗传政策和生物伦理学，因为它们适用于研究设计和研究成果的使用。这项提议代表了范德比尔特大学医学院和梅哈里医学院之间的一个相互关联的项目，以培养未来的研究人员来表征遗传变异及其表型含义。主要的重点将是人类遗传学，并有机会研究模式生物。探索领域将包括群体遗传学，计算生物学，信息学，遗传对常见的多因素（如糖尿病和高血压）和单基因疾病（如血红蛋白病和先天性代谢错误）的贡献；基因表达机制；基因变异检测技术；遗传变异的最终产物效应；遗传差异的伦理和社会影响，以及遗传变异对社会政策的影响。将特别强调培训个人认识和研究人类在遗传疾病分布方面差异的基础。这一重点将有助于确保遗传学进步的好处将惠及更多的社会成员。

DESCRIPTION: (provided by applicant) Human genetics has emerged as dominant force in biology and medicine. The dominance of genetics stems from its central importance in explaining the most basic mysteries of life and its repertoire of methods that can elucidate function and mechanisms of normal and deranged gene expression in virtually every area of biology. A remarkable change is now underway where information and discoveries generated from once disparate subfields (e.g. molecular genetics, population genetics, and human genetics) are now spawning new developments in other areas of genetics and biology. Indeed, genetic subfield identities are quickly eroding as investigators are taking advantage of multiple approaches and multiple model organisms. Thus it is incumbent upon us to train graduate students more broadly to take advantage of this developing synergy. Genetics also entails special and important social, ethical, and political implications. It is also critically important that students learn about genetic policy and bioethics as they apply to both research design and the use of research results. This proposal represents an interrelated program between Vanderbilt University School of Medicine and Meharry Medical College to train future investigators to characterize genetic variation and its phenotypic implications. The primary focus will be human genetics, with opportunities to study model organisms. Areas of exploration will include population genetics, computational biology, informatics, genetic contributions to common both multi factorial (e.g., diabetes and hypertension) and single gene disorders (e.g., hemoglobinopathies and inborn errors of metabolism); mechanisms of gene expression; technologies to detect genetic variation; end-product effects of genetic variation; ethical and social implications of genetic differences, and effects of genetic variation on social policy. Special emphasis will be placed on training individuals to recognize and study the basis of differences between human populations with respect to the distribution of genetic diseases. This emphasis will help ensure that the benefits of advances in genetics will be available to more members of society.