Medical Genetics Training Grant

 描述(由申请人提供)：约翰霍普金斯大学医学遗传学博士后培训计划的总体目标是招聘和培养有潜力成为基因医学领域领导者的内科科学家。我们的计划旨在让学员接触从实验室到患者环境的现代医学遗传学和基因组学的方方面面。约翰霍普金斯大学在遗传特征的分类和图谱、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孟德尔疾病和具有重大遗传贡献的多因素疾病的临床研究、诊断、分类和治疗方面处于领先地位。这一博士后培训经验强调了遗传学和基因组学方面的指导研究，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(IGM)监督约翰霍普金斯大学医学院在人类遗传学方面的临床、教育和研究活动。为了应对临床基因组学快速发展的挑战和遗传学与所有医学相结合的需要，政府间基因组学委员会采取了重大举措来扩大基因组研究和基因组医学，其中包括建立(1)计算生物学中心(2)贝勒-霍普金斯孟德尔基因组学中心(BHCMG)和(3)约翰霍普金斯临床基因组学中心(CGC)。这些中心建立在霍普金斯大学遗传学和基因组学资源的基础上，其中包括在线麦德兰遗传人类百科全书(OMIM)和遗传病研究中心(CIDR)，前者是由维克多·麦库西克博士在1960年的《S》中建立的关于3000多种已知和无法解释的孟德尔疾病的百科全书；另一个是遗传病研究中心(CIDR)，它是由David Valle博士自1996年以来由NIH资助的面向遗传学研究人员的全国性资源。政府间医学委员会在培养、招募和留住内科科学家方面做出了很大努力。目前，该T32项目的46名导师中有28人(58%)拥有医学硕士学位。自从上一次更新这项申请以来，政府间医学委员会增加了9名内科科学家，这表明了政府间医学委员会领导层的承诺和高度支持的培训环境。与其他教员一起，这些新的内科科学家为我们的住院医生实习生提供了出色的指导和伟大的榜样。IGM临床遗传学培训环境极佳，在代谢先天疾病、结缔组织疾病、心血管遗传学疾病、骨骼发育不良、表观遗传学、神经发育障碍和临床基因组学方面具有特别强的实力。IGM是OMIM的所在地，OMIM是一本关于3000种已知和无法解释的孟德尔病症的百科全书。约翰霍普金斯大学及其附属培训网站拥有40家诊所和项目，为患有个体遗传疾病的成人和儿童提供服务，包括亨廷顿病诊所、APKD中心、遗传性心脏病中心、肌肉营养不良诊所、唐氏综合症诊所、脆性x综合征诊所、过氧化体和线粒体疾病诊所、Rett综合征诊所，以及许多其他诊所。为了进一步扩大学员的临床和研究培训机会，我们于2012年与NHGRI医学遗传学住院医师项目建立了培训联盟。这使我们的学员能够接触到NIH遗传学研究的大量资源和领先的研究人员，包括由William Gahl博士指导的未诊断疾病计划和由Leslie Biesecker博士指导的大规模医学测序临床研究计划ClinSeq。我们的培训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。在过去的5年里，我们绝大多数(86%)的毕业生在学术机构工作。在本年度接受培训补助金资助的学员(n=5)中，40%(n=2)是代表不足的少数族裔。我们为期三年的分类课程核心课程包括12个月的集中临床培训和6个月的研究型临床经验。接下来是为期18个月的遗传学指导研究培训。研究在精心挑选的导师的主持下进行，并由项目主任和资深教职员工提供额外的指导和职业指导。成功完成项目后，学员有资格获得美国医学遗传学委员会的临床遗传学认证，并拥有丰富的研究经验，可以开始独立的医生-科学家职业生涯。近年来，本专业与儿科(4年)、内科(5年)、母婴医学(4年)相结合的培训项目快速增长。这些合并的项目都有类似的医学遗传学核心课程，并吸引了更多优秀的医学遗传学住院医师培训申请者。我们的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。综上所述，基因组医学的快速发展为培养有潜力成为基因医学未来领导者的内科科学家提供了巨大的机遇和挑战。我们的培训计划，凭借其出色的培训环境和资源，以及一批致力于卓越的研究、教育和患者护理的世界级遗传学家，处于有利地位，能够领导这些努力，迎接这些历史挑战。

 DESCRIPTION (provided by applicant): The overall objectives of the Johns Hopkins Postdoctoral Training Program in Medical Genetics are to recruit and educate physician-scientists who have the potential to become leaders in the field of Genetic Medicine. Our program is designed to expose trainees to all facets of modern medical genetics and genomics extending from the laboratory to the patient setting. Johns Hopkins provides leadership in the categorization and mapping of inherited traits, the application of genomic and computational methods to the identification and understanding of multiple genes and their role in human diseases, and in clinical studies, diagnosis, classification, and treatment of Mendelian disorders and multifactorial disorders with significant genetic contributions. This postdoctoral training experience emphasizes mentored research in genetics and genomics, and prepares trainees for a career in academic medicine. The McKusick-Nathans Institute of Genetic Medicine (IGM) oversees the clinical, educational, and research activities in human genetics of the Johns Hopkins University School of Medicine. To meet the challenges in the rapid development of clinical genomics and the need for integration of genetics into all medicine, the IGM has taken major initiatives to expand genome research and genomic medicine, which include establishing (1) the Center for Computational Biology (2) the Baylor-Hopkins Center for Mendelian Genomics (BHCMG), and (3) the Johns Hopkins Clinical Genomics Center (CGC). These centers were built on the strength of genetics and genomics resources at Hopkins including the Online Medelian Inheritance in Man (OMIM), an encyclopedia of more than 3000 known and unexplained Mendelian disorders established by D r. Victor McKusick in 1960's , and Center for Inherited Disease Research (CIDR), a NIH funded national resource for genetics researchers directed by Dr. David Valle since 1996. The IGM has made a great effort in training, recruiting, and retaining physician-scientists. Currently 28 of 46 (58%) of mentors of this T32 program have MD degree. Since last renewal of this application, the IGM added 9 physician scientists to its faculty, which shows the commitment of IGM leadership and a highly supportive training environment. Together with other faculty, these new physician scientists provide excellent mentorship and great role models for our resident trainees. The IGM clinical genetics-training environment is excellent with particular strength in inborn errors of metabolism, connective tissue disorders, cardiovascular genetics disorders, skeletal dysplasia, epigenetics, neurodevelopmental disorders, and clinical genomics. IGM is the home for OMIM, an encyclopedia of >3000 known and unexplained Mendelian disorders. Johns Hopkins and affiliated training sites have >40 clinics and programs caring for adult and children with individual genetics disorders including Huntington disease clinic, Center for APKD, Center for Inherited Heart Disease, Muscular Dystrophy clinic, Down syndrome clinic, Fragile x syndrome clinic, peroxisomal and mitochondrial disorder clinic, Rett syndrome clinic, and many others. To further expand clinical and research training opportunities for our trainees, we established a training consortium with NHGRI medical genetics residency program in 2012. This allows our trainees to get access to the vast resources and leading investigators in genetics research at NIH including the Undiagnosed Disease Program directed by Dr. William Gahl and ClinSeq, a large scale medical sequencing clinical research program directed by Dr. Leslie Biesecker. Our training program has an outstanding track record of educating physician-scientists who have made and continue to make substantial contributions to medical genetics. Over the last 5 years, the vast majority (86%) of our graduates took positions in academic institutions. Among the training-grant supported trainees (n=5) in the current year, 40% (n=2) are under-representative minority (URM). Our three-year core curriculum for categorical program includes 12 months of concentrated clinical training and 6 months of research-oriented clinical experience. This is followed by 18 months of mentored research training in genetics. Research is performed under the auspices of a carefully selected mentor, with additional mentoring and career guidance provided by the Program Director and senior faculty members. After successfully completion of the program, trainees are eligible for certification by American Board of Medical Genetics in clinical genetics and have a strong research experience to embark on independent career as physician-scientists. In recent year, our program enjoys a rapid growth of combined training programs with pediatrics (4 years), internal medicine (5 years), and maternal fetal medicine (4 years). These combined programs have similar core curriculum in medical genetics and have attracted a much larger pool of outstanding applicants for residency training in medical genetics. Our program currently averages 10 trainees per year and 5 trainee stipends per year are requested in this application. In summary, the rapid advancement in genomic medicine provides a great opportunity and challenges in training of physician-scientists who have the potential to be future leaders in genetic medicine. Our training program, with its excellent training environment and resources, and a group of world-class geneticists who are devoted to excellence in research, education and patient care, is well positioned to lead the efforts and meet these historical challenges.