Translational Genetics and Genomics of Airways Diseases

该计划是一个新的K12应用程序，名为“气道疾病的翻译遗传学和基因组学”。该计划将借鉴过去30年来由Channing实验室、Brigham和妇女医院的高级教师与哈佛公共卫生学院生物统计学系和儿童医院信息学小组合作积累的集体经验和培训。斯科特·T.韦斯，医学教授和主任呼吸，环境和遗传流行病学在钱宁实验室，将指导该计划。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病学家，并让学员以翻译的方式应用该培训，以帮助 患者和治疗气道疾病通过独立的NIH基金。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学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学和遗传事件在成人肺病中的作用）， 这一整体气道疾病的焦点。该计划从三个重要来源中汲取力量：（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）长期存在的T32培训计划，其中一半的教师已经毕业。这个培训项目非常成功，培训了100多名全职教师，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人员，最后，（三）成功参与NHLBI的基因组应用计划，成为第一批教授遗传学和基因组学的三组肺部相关研究者之一给同行和学员除了这三个主要的支持来源，该计划还得到了广泛的基础设施的支持，以进行人类遗传学和基因组学研究，其中包括最先进的计算机系统，高通量基因分型和测序实验室以及最先进的LIMS系统，管理超过100个，在美国和世界各地的123个地点进行的58个独立的遗传和基因组项目的000个DMA样本。最后，每年共有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T-32遗传学学员成功地K资助或同等资助，以及6/6（100%）的合格人员成功地R 01资助。

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 10.5million 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-32trainees 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.