UCLA Medical Genetics Training Program

项目摘要/摘要 培养下一代医学遗传学家的需求从未像现在这样迫切。我们面临的最大挑战 是处理与NEXT等新方法相关的大量基因组信息 世代排序。这些新技术的压倒性力量正在改变传统的 医学诊断和功能调查的方法。这份续签培训计划将为 下一代要应对一个新的现实：1)基因测试和技术继续快速发展， 2)许多临床测试都是在医学遗传学诊所之外进行的，要么由其他专家进行，要么直接到- 消费者，3)人们越来越多地了解遗传对一系列人类疾病的影响， 4)基于遗传/基因组洞察的精准医学将改变治疗格局。我们的 加州大学洛杉矶分校医学遗传学博士后培训计划利用优秀的、多样化的教师和设施 加州大学洛杉矶分校的大卫·格芬医学院。这个项目的教职员工提供了丰富的研究 机遇，从基础分子生物学、基因组学、细胞生物学、干细胞研究、生化 遗传学、细胞遗传学、群体遗传学，到临床遗传学和畸形学。我们的协作型教师 将继续围绕三个主题领域进行组织：基因组医学、基因组时代的表型鉴定以及 遗传病的治疗。我们目前的提案包括来自21个临床和基础部门的46名教职员工 科学系。这些申请者和他们的导师被一个共同的目标团结在一起：优秀的奖学金 以及在人类遗传学研究中的领导地位。我们将为学员提供广泛的医学知识 遗传学和两年多的基因研究方面的密集经验，为他们成为 独立调查人员，重点是将遗传学的基础科学调查与临床医学和 从而成为未来的领导者。培训环境的主要优势包括充满活力和不断增长的临床 遗传学计划，可接触到不同种族的人口，最先进的诊断实验室 细胞遗传学、生化遗传学和分子遗传学，包括一个临床基因组学中心 外显子组测序，各种资金充足的研究实验室，长期的培训经验 教员，医学遗传学的特定博士后课程，经验丰富的多样性副主任 支持培训来自不同背景的个人，包括代表性不足的少数群体和 残疾人，他们可以丰富我们的计划和医学遗传学领域。而我们的节目 有33年的成功历史，计划中实施的变化完全集中在培训上 使用现代基因组学技术的未来领导者，并热情地拥抱巨大的 新发现将带来的变化。

PROJECT SUMMARY / ABSTRACT The need to train the next generation of medical geneticists has never been more urgent. Our biggest challenge in Medicine is to handle the flood of genomic information associated with new methodologies such as next generation sequencing. The overwhelming power of these new technologies is transforming the traditional approach to medical diagnosis and functional investigations. This renewal training proposal will prepare the future generation to tackle a new reality in which: 1) genetic testing and technology continues to develop rapidly, 2) much clinical testing is done outside of the medical genetics clinic, either by other specialists or direct-to- consumer, 3) there is a growing understanding of the influence of genetics on a vast array of human disease, and 4) precision medicine based on genetic/genomic insights will transform the therapeutic landscape. Our UCLA Medical Genetics Post-Doctoral Training Program utilizes the outstanding, diverse faculty and facilities of the David Geffen School of Medicine at UCLA. The faculty of this program provides a wealth of research opportunities, varying from basic molecular biology, genomics, cell biology, stem cell research, biochemical genetics, cytogenetics, population genetics, to clinical genetics and dysmorphology. Our collaborative Faculty will remain organized around three thematic areas: Genomic Medicine, Phenotyping in the Genomic Era, and Treatment of Genetic Disease. Our current proposal includes 46 faculty members from 21 clinical and basic science departments. These applicants and their mentors are united by a common goal: excellent scholarship and leadership in human genetics research. We will provide our trainees with a broad knowledge of medical genetics and an intensive experience in genetic research over a two-year period to prepare them to become independent investigators, with a focus on linking basic science investigation in genetics to clinical medicine and thus serve as future leaders. Major strengths of the training environment include a vibrant and growing clinical genetics program with access to an ethnically varied population, state-of-the-art diagnostic laboratories in cytogenetics, biochemical genetics, and molecular genetics, including a clinical genomics center that produces exome sequencing, a wide variety of well-funded research laboratories, a longstanding training experience of faculty, a specific postdoctoral course in medical genetics, an experienced associate director for diversity in order to support the training of individuals from diverse backgrounds, including underrepresented minorities and individuals with disabilities, who can enrich our program and the field of medical genetics. While our program has a 33-year history of success, the changes implemented in the program are focused squarely on the training of future leaders using the modern technologies of genomics, and enthusiastically embraces the enormous changes that new discoveries will bring.