Medical Genetics Training Program

描述(由申请者提供)：本培训计划的目标是招募和培养有潜力成为基因医学领域领导者的内科科学家。该计划旨在让受训人员接触从实验室到患者环境的现代医学遗传学的方方面面。霍普金斯大学在遗传特征的分类和图谱、新陈代谢先天疾病和神经遗传疾病患者的研究和管理、基因组和计算方法的应用以识别和理解多个基因及其在人类疾病中的作用以及结缔组织疾病的诊断、分类和治疗方面处于领先地位。培训经验强调对人类遗传学的研究，并为学员在学术医学领域的职业生涯做好准备。McKusick-Nathans遗传医学研究所负责监督约翰霍普金斯医学院在人类遗传学方面的临床、教育和研究活动。学院的教研室和研究实验室设施整合在毗邻医院的百老汇研究大楼内。临床课程在医院空间内运作，教育活动在医院、研究和临床前教学大楼进行。因此，该研究所的研究、教育和临床课程非常接近，便于教师和实习生从一个活动过渡到另一个活动。该计划在培养对医学遗传学做出重大贡献并将继续做出重大贡献的内科科学家方面有着出色的记录。希望获得美国医学遗传学委员会资格的医生进行为期12个月的临床培训，然后进行6个月的以研究为导向的临床培训，然后进入为期18个月的深入基因研究的密集体验。为了保持对研究培训的高度重视，并扩大将对遗传医学领域的进步做出贡献的医生数量，该研究所提供儿科和遗传学(5年)、产妇胎儿医学和遗传学(4年或5年)和内科医学和遗传学(5年)的综合培训方案。每个培训计划的临床部分的受训人员津贴由医院提供，而当受训人员主要致力于研究时，这笔赠款将为他们提供支持。研究在精心挑选的导师的主持下进行，项目主任、联席主任和选定的高级教员提供额外的指导和职业指导，以促进过渡到富有成效的独立研究生涯。该计划目前平均每年招收10名实习生，本申请要求每年提供5笔实习生津贴。

DESCRIPTION (provided by applicant): The goal of this training program is to recruit and educate physician-scientists who have the potential to become leaders in the field of Genetic Medicine. The program is designed to expose trainees to all facets of modern medical genetics extending from the laboratory to the patient setting. Hopkins provides leadership in the categorization and mapping of inherited traits, the study and management of patients with inborn errors of metabolism and neurogenetic disorders, the application of genomic and computational methods to the identification and understanding of multiple genes and their role in human disease, as well as the diagnosis, classification and treatment of disorders of connective tissue. The training experience emphasizes research in human genetics and prepares trainees for a career in academic medicine. The McKusick-Nathans Institute of Genetic Medicine oversees the clinical, educational and research activities in human genetics of the Johns Hopkins School of Medicine. Faculty offices and research laboratory facilities of the Institute are consolidated in the Broadway Research Building that is adjacent to the Hospital. The Clinical Program operates within Hospital space and educational activities occur in the Hospital, Research and Preclinical Teaching Building. Thus, Research, Education and Clinical Programs of the Institute are in close proximity facilitating transition from one activity to another for faculty and trainees. The program has an outstanding track record of educating physician-scientists who have made and continue to make substantial contributions to medical genetics. Physicians desiring eligibility for the American Board of Medical Genetics perform clinical training for 12 months followed by 6 months of research-oriented clinical exposure before entering 18 months of an intensive in-depth experience in genetic research. To maintain the strong emphasis on research training and to expand the number of physicians who will contribute to advancements in the field of genetic medicine, the Institute offers combined training programs in pediatrics and genetics (5 years), maternal fetal medicine and genetics(4 or 5 years), and internal medicine and genetics (5 years). Trainee stipends for the clinical portion of each training program are provided by the Hospital while this grant supports trainees when they are primarily devoted to research. Research is performed under the auspices of a carefully selected mentor, with additional mentoring and career guidance provided by the Program Director, the Co-Director and selected senior faculty members to facilitate transition into a productive independent research career. The program currently averages 10 trainees per year and 5 trainee stipends per year are requested in this application.