Translational Genetics and Genomics of Airways Diseases

描述(由申请者提供)：该计划是一个新的K12应用程序，题为“呼吸道疾病的转化遗传学和基因组学”。该计划将利用过去30年来钱宁实验室、布里格姆和妇女医院的高级教员与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合作积累的集体经验和培训。钱宁实验室医学教授兼呼吸、环境和遗传流行病学主任斯科特·T·韦斯博士将指导该项目。该计划的总体目标是雄心勃勃的：即在人类遗传学和基因组学的定量和分子研究技术方面培训临床肺科医生，并让受训人员以翻译的方式应用培训来帮助患者并通过独立的NIH资金治疗呼吸道疾病。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)的遗传学和基因组学，尽管也在讨论其他相关的遗传学研究问题(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)，因为它们与整个呼吸道疾病的焦点有关。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)长期的T32培训计划，一半的教职员工都是从该计划毕业的。这一培训计划取得了非凡的成功，在过去的30年里，已经培训了100多名全职教职员工，其中包括美国国家科学院医学研究所的3名成员，以及美国和加拿大各地的6名系主任，最后，(3)作为仅有的三组肺相关研究人员之一，成功参与了NHLBI的基因组应用计划，他们是第一批向同行和学员教授遗传学和基因组学的人员之一。除了这三个主要的支持来源外，该计划还得到了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、一个高通量的基因分型和测序实验室以及一个最先进的LIMS系统，该系统管理着来自58个独立的遗传和基因组项目的100,000多个DNA样本，这些项目在美国和世界各地的123个地点进行。最后，每年总共有54笔赠款，涉及1050万美元的直接成本，用于支持这项研究和培训工作。在过去的6年里，该研究小组合作发表了124篇遗传学和基因组学的出版物。在过去的10年里，我们成功地将10/10(100%)的T-32遗传学学员成功地带到了K资助金或同等资助金，并将6/6(100%)的合格学员成功地带到了R01资助金。 (摘要结束)

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)