Mentoring Investigators on the Clinical Translation of Cardiometabolic Genetic Discoveries

摘要 我们已经进入了一个基因组和生物信息爆炸的新时代 跨越多种发育和新陈代谢状态，有望改变 医药。临床医生吸收、吸收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临床医生 非临床科学家，他们擅长处理大数据，谁能策划， 传播和实施从持续努力中出现的临床上可操作的发现。 这项申请的PI致力于推动基因组和代谢学的发展 在2型糖尿病和相关代谢特征方面的发现，以及在 这一奖项产生了资源，并在马萨诸塞州建立了培训渠道 总医院(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，他们将被授权领导 基因组和全系统方法在临床环境中的应用。要做到这一点 目标，他将1)扩展现有的相关基因组和生理数据集的基础设施 对于采矿，2)保持精心挑选的学员的严格而有教养的培训渠道， 以及3)指导可以在理想中检验的临床相关假说的研究 环境。弗洛雷斯博士置身于一个成功而富有成效的环境中， 协作文化。作为内分泌科科长和疾病控制中心成员 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 独特的职位，将使他和他的受训人员受益于直接访问 无与伦比的培训资源和数据集，与建议的以患者为导向 心脏代谢性疾病的研究。

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.