UCLA Medical Genetics Training Program

项目总结/摘要 培养下一代医学遗传学家的需求从未如此紧迫。我们最大的挑战 在医学中，处理与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 医学诊断和功能研究的方法。此更新培训提案将为 未来一代要应对一个新的现实，其中：1）基因检测和技术继续迅速发展， 2)许多临床测试是在医学遗传学诊所之外进行的，要么由其他专家进行，要么直接进行。 消费者，3）人们越来越了解遗传学对各种人类疾病的影响， 4）基于遗传/基因组洞察的精准医学将改变治疗前景。我们 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。该计划的教师提供了丰富的研究 机会，从基础分子生物学，基因组学，细胞生物学，干细胞研究，生物化学 遗传学，细胞遗传学，群体遗传学，临床遗传学和畸形学。我们的合作教师 将继续围绕三个主题领域组织：基因组医学，基因组时代的表型分析， 治疗遗传性疾病。我们目前的建议包括46名教师从21个临床和基础 科学部门。这些申请人和他们的导师有一个共同的目标：优秀的奖学金 人类遗传学研究的领导者。我们将为学员提供广泛的医疗知识， 遗传学和基因研究的密集经验，在两年的时间内，他们准备成为 独立研究人员，重点是将遗传学基础科学研究与临床医学联系起来， 作为未来的领导者。培训环境的主要优势包括一个充满活力和不断发展的临床 遗传学计划，可访问不同种族的人口，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，包括临床基因组学中心， 外显子组测序，各种各样的资金雄厚的研究实验室，长期的培训经验， 教师，在医学遗传学的具体博士后课程，一个经验丰富的副主任多样性，以 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， 残疾人，谁可以丰富我们的计划和医学遗传学领域。虽然我们的计划 有33年的成功历史，在该计划中实施的变化是直接集中在培训 未来的领导者使用基因组学的现代技术，并热情地拥抱巨大的 新发现带来的变化。

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.