Mentoring Investigators on the Clinical Translation of Cardiometabolic Genetic Discoveries

摘要 我们已经进入了一个新的时代，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型糖尿病和相关代谢特征的发现，并在第一个资助周期， 这一奖励产生了资源，并在马萨诸塞州建立了一个培训管道 综合医院（MGH）和布罗德研究所。他现在寻求继续吸引和指导 一支训练有素的调查人员队伍，他们将能够并有权领导 将基因组和全系统方法应用于临床环境。实现这一 目标是1）扩展可用的相关基因组和生理数据集的基础设施 对于采矿业，2）保持一个严格但培育的培训管道，精心挑选学员， 和3）指导临床相关假设的研究，这些假设可以在理想的情况下进行检验。 环境弗洛雷斯是嵌入在一个成功和富有成效的环境，拥抱一个 合作的文化。作为内分泌科科长和中心成员， MGH的基因组医学和布罗德研究所的研究所成员，他被安排在一个 独特的地位，这将使他和他的学员受益于直接进入一个 无与伦比的培训资源和数据集套件，与拟议的以患者为导向的 心脏代谢疾病的研究。

ABSTRACT We have entered 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 related metabolic traits, and during the first funding cycle of this award generated resources and established a training pipeline at the Massachusetts General Hospital (MGH) and Broad Institute. He now seeks to continue attracting and mentoring 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) expand the infrastructure of pertinent genomic and physiologic datasets available for mining, 2) maintain 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 ideal environment. Dr. Florez is embedded in a successful and productive milieu that embraces a culture of collaboration. As the Chief of the Endocrine Division and member of the Center for Genomic Medicine at the MGH 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 cardiometabolic disease.