Translational Genetics and Genomics of Airways Diseases

描述（由申请人提供）：拟议的项目是一个新的K12申请，题为“呼吸道疾病的转化遗传学和基因组学”。该项目将利用钱宁实验室、布里格姆妇女医院、哈佛大学公共卫生学院生物统计系和儿童医院信息学小组的高级教员在过去30年里积累的集体经验和培训。钱宁实验室呼吸、环境和遗传流行病学的医学教授和主任Scott T. Weiss博士将指导该项目。这个项目的总体目标是雄心勃勃的：即培训临床肺科医生在人类遗传学和基因组学的定量和分子研究技术，并让学员以转化的方式应用这些培训，通过独立的NIH资助来帮助患者和治愈气道疾病。本次培训的主要研究重点将是哮喘和慢性阻塞性肺疾病（COPD）遗传学和基因组学，尽管其他相关的遗传研究问题也正在得到解决（例如，肺发育的遗传学和基因组学以及早期生命表观遗传和遗传事件在成人肺部疾病中的作用），因为它们与整个气道疾病的重点有关。该计划的优势来自三个重要来源：(1)丰富的研究环境，即钱宁实验室、布里格姆妇女医院、哈佛医学院和哈佛公共卫生学院；(2)一个长期存在的T32培训项目，其中一半的教师已经毕业。这个培训项目非常成功，已经培训了100多名全职教师，其中包括美国国家科学院医学研究所的三名成员，以及过去30年来在美国和加拿大主持部门的六名个人，最后，(3)成功参与NHLBI基因组学应用项目，作为首批向同行和学员讲授遗传学和基因组学的三组肺相关研究人员之一。除了这三个主要的支持来源外，该项目还得到了一个广泛的人类遗传学和基因组学基础设施的支持，其中包括一个最先进的计算机系统，一个高通量基因分型和测序实验室，以及一个最先进的LIMS系统，该系统管理来自美国和世界各地123个地点的58个独立遗传和基因组项目的100,000多个DMA样本。最后，每年总共有54笔赠款，涉及1050万美元的直接成本，用于推动这项研究和培训工作。在过去的6年里，该研究小组在遗传学和基因组学方面合作发表了124篇论文。在过去的10年里，我们已经成功地将10/10（100%）的遗传学T-32学员成功地获得了K资助或同等的资助，并将6/6（100%）的合格学员成功地获得了R01资助。

DESCRIPTION (provided by applicant): The proposed program is a new K12 application entitled "Translational Genetics and Genomics of Airways Diseases". The program will draw on the collective experience and training accrued over the past 30 years by senior faculty at the Channing Laboratory, Brigham and Women's Hospital in collaboration with the Biostatistics Department of the Harvard School of Public Health and the Children's Hospital Informatics Group. Dr. Scott T. Weiss, Professor of Medicine and Director of Respiratory, Environmental, and Genetic Epidemiology at the Channing Laboratory, will direct the program. The overall goal of this program is ambitious: namely, to train clinical pulmonologists in the quantitative and molecular research techniques of human genetics and genomics and have the trainees apply that training in a translational way to help patients and cure airway disease via independent NIH funding. The primary research focus for this training will be on asthma and chronic obstructive pulmonary disease (COPD) genetics and genomics, although other related genetic research concerns are being addressed as well (e.g., the genetics and genomics of lung development and the role of early life epigenetic and genetic events in adult lung disease) as they relate to this overall airway disease focus. The program draws its strength from three important sources: (1) A rich environment for research, namely the Channing Laboratory, Brigham and Women's Hospital, Harvard Medical School, and Harvard School of Public Health; (2) A long standing, T32 training program from which half of the faculty has graduated. This training program has been unusually successful, having trained more than 100 full-time faculty, including three members of the Institute of Medicine of the National Academy of Sciences, and six individuals who chair departments across the U.S. and Canada over the past 30 years, and finally, (3) Successful participation in the Program in Genomic Applications of NHLBI as one of only three groups of lung related investigators who were in the first wave of teaching genetics and genomics to peers and trainees. In addition to these three primary sources of support the program is supported by an extensive infrastructure to do human genetics and genomics which includes a state of the art computer system, a high throughput genotyping and sequencing laboratory and a state of the art LIMS system that manages over 100,000 DMA samples from 58 separate genetic and genomic projects conducted at 123 locations around the US and the world. Finally, there are a total of 54 grants involving 10.5 million in direct cost dollars yearly that fuel this research and training effort. The research group has collaboratively produced a total of 124 publications in genetics and genomics over the past 6 years. We have successfully taken 10/10 (100%) of our T-32 trainees in Genetics to successful K funding or its equivalent, and 6/6 (100%) of those eligible, to successful R01 funding in the past 10 years. (End of Abstract)