The Genetics and Prevention of Gastrointestinal Cancers

描述(由申请者提供)：这份K24申请有两个广泛的目标：指导初级研究人员以患者为中心的研究，以及扩大在遗传学和胃肠道癌症预防方面的研究计划。候选人萨普娜·辛格尔，医学博士，公共卫生硕士，哈佛医学院医学副教授，在达纳·法伯癌症研究所的人口科学部和布里格姆妇女医院的胃肠病科担任过双重职务。她在支持和促进从事以患者为导向的胃肠病学和癌症遗传学研究的医生的职业生涯方面建立了良好的记录。她目前的导师小组包括五名初级教员，他们目前拥有NIH研究奖，或计划在未来几个月申请NIH拨款，以及四名博士后研究员，他们参与了积极的以患者为导向的研究项目。辛格尔博士也是NIH各种培训资助的活跃教员，包括胃肠病学T32、遗传学T32和癌症结果R25--这些培训资助将继续导致越来越多的博士后研究员需要密切监督、指导和指导。 辛格尔博士的研究计划包括评估人类癌症遗传学和早期检测方法对患者护理的影响的研究。这些研究使用了各种临床研究设计，包括遗传流行病学、临床预测模型的开发以及临床试验。正在进行的项目包括：(1)确定和处理遗传性结直肠癌综合征患者的最佳方法的研究；(2)与食道和结直肠癌发生有关的新生物标志物的研究；(3)寻找胰腺癌的基因；(4)李-弗劳梅尼综合征患者的最佳处理方法研究。辛格尔博士目前是RO1奖项的首席研究员，也是NIH其他几个多中心拨款的联合研究员。 在过去的几年里，辛格尔博士已经确立了自己在遗传性结直肠癌综合征方面的全国领导者的地位，也是有兴趣从事以患者为导向的研究的初级研究人员的宝贵导师。 公共卫生相关性：辛格尔博士的研究项目继续提供有关遗传突变的表型相关性的基本数据，帮助寻找基因，并确定对胃肠道癌症高危人群的最佳管理。它还有助于不断增加胃肠道癌症和癌症遗传学领域训练有素的临床研究人员。

DESCRIPTION (provided by applicant): This K24 application has two broad goals: mentoring junior investigators in patient-oriented research, and expanding a research program in the genetics and prevention of gastrointestinal cancers. The candidate, Sapna Syngal, MD, MPH, is an Associate Professor of Medicine at Harvard Medical School, with dual appointments in the Population Sciences Division of Dana Farber Cancer Institute and the Gastroenterology Division at Brigham and Women's Hospital. She has established a track record at supporting and advancing the careers of physicians pursuing patient-oriented research in gastroenterology and cancer genetics. Her current group of mentees includes five junior faculty members, who currently have NIH research awards or are planning to apply for a NIH grant in the next few months, and four post-doctoral research fellows who are involved in active patient-oriented research projects. Dr. Syngal is also an active faculty member of a variety of NIH training grants, including a T32 in Gastroenterology, a T32 in Genetics, and a R25 in Cancer Outcomes - these training grants will continue to lead to an increasing number of post-doctoral fellows who need close supervision, guidance and mentorship. Dr. Syngal's research program consists of studies that evaluate the impact of human cancer genetics and early detection methods on patient care. These studies use a variety of clinical research designs, including genetic epidemiology, development of clinical prediction models as well as clinical trials. Ongoing projects include (1) Study of optimal methods of identification and management of patients with hereditary colorectal cancer syndromes; (2) The study of novel biomarkers involved in esophageal and colorectal carcinogenesis; (3) Search for the gene for pancreatic cancer; and (4) Study of the optimal management of patients with Li-Fraumeni syndrome. Dr. Syngal is currently the Principal Investigator of an RO1 award and co-investigator on several other multi-center NIH grants. Over the past several years, Dr. Syngal has established herself as a national leader on hereditary colorectal cancer syndrome and a valued mentor for junior investigators interested in pursuing a career in patient-oriented research. PUBLIC HEALTH RELEVANCE: Dr. Syngal's research program continues to provide essential data on phenotypic correlates of inherited mutations, assist in gene-finding endeavors, as well as define the optimal management of individuals at high risk for the development of gastrointestinal cancers. It also contributes to the increasing pool of trained clinical researchers in the field of gastrointestinal cancers and cancer genetics.