Stanford Career Development Program in the Genetics & Genomics of Lun Diseases

描述（由申请人提供）：该项目的长期目标是发展一个多学科的职业发展计划，为新的医学博士和博士研究者提供知识和技能，以识别导致或易感肺部疾病的突变，并阐明受影响基因在疾病的病因和发病机制中的作用。本专业将强调肺部发育的遗传学和基因组学，特别是编码控制肺部发育程序重要步骤的信号通路成分的基因，以及这些基因和通路的缺陷如何导致或促成肺部疾病。该项目将为学者们提供小鼠、人类遗传学和基因组学方面的最新技术培训，使他们能够在易于处理的遗传有机体模型（小鼠）和更具挑战性但具有临床重要性的人类遗传学和基因组研究之间来回切换。在小鼠模型中，他们可以更容易地识别通路的新组成部分并确定其在肺部发育和疾病中的功能。该计划有三个主要组成部分。第一个是为期一年的遗传学和基因组学研究生课程核心课程，将为学者提供必要的背景和概念和技术框架，以进行该领域的研究。第二种是教学研究课程，它补充了第一年的课程，并为学者开展这类研究提供实用和道德的信息和培训。第三部分是在第二年和第三年进行的指导研究项目，使用小鼠或人类患者样本的遗传或基因组方法来识别或表征信号通路中的基因及其在肺部发育和疾病中的作用。项目完成后，学者们将具备开展自己的遗传和基因组实验的工具，旨在识别疾病基因及其在肺部疾病中的作用，并获得独立的研究经费。相关性：该计划将为新的研究人员提供知识和技能，以发现导致或促成肺部疾病的基因，从而导致诊断和潜在治疗这些疾病患者的新方法。

DESCRIPTION (provided by applicant): The long term objectives of this project is to develop a multidisciplinary career development program that will equip new MD and PhD investigators with the knowledge and skills to identify mutations that cause or predispose to lung diseases and to elucidate the roles of the affected genes in the etiology and pathogenesis of the diseases. This Program will emphasize the genetics and genomics of lung development, and in particular genes that encode components of signaling pathways that control important steps in the lung development program, and how defects in such genes and pathways can cause or contribute to lung disease. The program will train Scholars in state-of-the-art technologies in mouse as well as human genetics and genomics to allow them to move back and forth between a tractable model genetic organism [mouse) where they can more easily identify new components of pathways and determine their functions in ung development and disease, and the more challenging but clinically important human genetic and genomic studies. The Program has three major components. The first is a one-year core curriculum of graduate classes in genetics and genomics that will provide Scholars with the necessary background and conceptual and technical framework for research in this field. The second is a didactic research curriculum that supplements the coursework during the first year and provides practical and ethical information and training for carrying out this type of research to Scholars. The third part is a mentored research project carried out in the second and third years using a genetic or genomic approach in mouse or in human patient samples to identify or characterize genes in a signaling pathway and their roles in lung development and disease. Upon completion of the Program, Scholars will be equipped with the tools to carry out on their own genetic and genomic experiments aimed at identifying disease genes and their roles in pulmonary diseases and obtaining independent funding for such research. Relevance: This program will provide new investigators with the knowledge and skills to discover genes that cause or contribute to lung disease and thereby lead to new ways of diagnosing and potentially treating patients with those diseases. (End of Abstract)