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，在这个时代，基因组和生物信息爆炸 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型糖尿病方面的发现，现在寻求指导一支训练有素的调查人员队伍 谁将被赋予领导基因组和系统范围应用的能力 接近临床环境的方法。为了实现这一目标，他将1)建立一个 可用于挖掘的相关基因组和生理数据集，2)开发严格但 培养精心挑选的学员的培训渠道，以及3)指导调查 临床上相关的假设可以在适当的环境中检验。弗洛雷斯博士是 融入成功和富有成效的环境中，拥抱协作文化。作为 糖尿病中心主任兼人类遗传研究中心成员 麻省总医院，哈佛医学院副教授， 作为布罗德学院的会员，他被安排在一个独特的位置，这将使他和 他的受训人员将受益于直接获得无与伦比的培训资源和 数据集与拟议的以患者为中心的2型糖尿病及其相关研究密切相关 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.