Mentoring Investigators on the Clinical Translation of Genetic Discoveries in Type 2 Diabetes

摘要 我们正在进入一个新时代，基因组和生物信息的爆炸 在多种发育和代谢状态下， 药临床医生吸收、消化和翻译这些信息的能力将 确定其对公众健康的影响程度。迫切需要培训临床和 非临床科学家，他们有能力处理大量的生物数据，他们可以策划， 传播和实施正在进行的努力中产生的可在临床上采取行动的调查结果。 该应用程序的PI致力于推进基因组学和代谢组学 2型糖尿病的发现，现在寻求指导一批训练有素的研究人员 谁将能够和授权领导基因组和系统范围的应用， 接近临床环境。为了实现这一目标，他将1）建立一个基础设施， 相关的基因组和生理数据集可用于挖掘，2）开发一个严格的，但 培养经过精心挑选的学员的培训渠道，以及3）指导调查 可以在适当环境中检验的临床相关假设。弗洛雷斯医生 在一个成功和富有成效的环境中，拥抱合作文化。为 糖尿病科科长和人类遗传研究中心成员， 马萨诸塞州总医院，哈佛医学院副教授， 作为布罗德研究所的研究所成员，他处于一个独特的位置，这将使他能够和 他的学员受益于直接获得一套无与伦比的培训资源， 数据集密切相关的拟议患者为导向的研究2型糖尿病及其 并发症

ABSTRACT We are entering a new era in which the explosion of genomic and biological information across multiple developmental and metabolic states is poised to transform the practice of medicine. The clinician's ability to absorb, assimilate and translate this information will determine the extent of its impact on public health. There is an urgent need to train clinical and non-clinical scientists who are competent on big biological data, and who can curate, disseminate and implement the clinically actionable findings that emerge from ongoing efforts. The PI on this application has dedicated himself to advance genomic and metabolomic discoveries in type 2 diabetes, and now seeks to mentor a cadre of highly trained investigators who will be enabled and empowered to lead the application of genomic and systems-wide approaches to the clinical setting. To achieve this goal, he will 1) establish an infrastructure of pertinent genomic and physiologic datasets available for mining, 2) develop a rigorous yet nurturing training pipeline of carefully selected mentees, and 3) guide the investigation of clinically relevant hypotheses that can be tested in the appropriate environment. Dr. Florez is embedded in a successful and productive milieu that embraces a culture of collaboration. As the Chief of the Diabetes Unit and member of the Center for Human Genetic Research at the Massachusetts General Hospital, an Associate Professor at Harvard Medical School, and an Institute Member at the Broad Institute, he is placed in a unique position that will enable him and his trainees to benefit from direct access to an unparalleled suite of training resources and datasets germane to the proposed patient-oriented research in type 2 diabetes and its complications.