The training program recognizes that our residents come from diverse background in their prior training, experience and interest. In addition to meeting the core training objectives during their residency, 许多住院医师有兴趣发展自己的专业领域，并获得遗传学相关的临床和研究经验.

To meet these demands, 我们在约翰霍普金斯大学组织了校园范围内的临床遗传学资源，根据住院医生的个人兴趣和需求，建立了以实习生为中心和主题的遗传学轮转. These rotations are integrated and maximize clinical experiences and self-directed learning. Each rotation focuses on a common theme in clinical genetics such as Adult Genetics, Biochemical Genetics, Syndromes and Malformations, Neurogenetics and Clinical Genomics. Working with individual rotation directors, 为了优化个性化的学习体验，住院医生在建立自己的主题轮转方面发挥着重要作用.

Adult Genetics Rotation

Director: Patrick Sosnay, M.D.

Recent advancements in medicine recognize the genetic contributions to diseases in all ages. 成人遗传学是一个快速发展的医学遗传学领域，为患有遗传疾病或遗传疾病倾向的成年人提供专门的护理. These conditions may be adult onset such as cardiomyopathy, 某些癌症综合征和亨廷顿病或儿童发病的疾病持续到成年，如苯丙酮尿症, Marfan syndrome and neurofibromatosis. 成人遗传学选修课为医学遗传学和其他临床专业的住院实习医师提供了一个独特的机会来获得必要的知识, clinical skills and experience to recognize and effectively manage common genetics conditions in adults. 住院医生在约翰霍普金斯医院的多个专科诊所和附属诊所进行轮转，在这些方面的专家教员的监督下.

Participating Clinics: Cardiovascular genetics (inherited arrhythemia, cardiomyopathy); cancer genetics (breast, ovarian, colon cancers); connective tissue disorders (Marfan, Elhers-Danlos, and Leoys-Dietz syndrome); neurogenetics (Huntington disease, neurofibromatosis); inherited muscle diseases (mitochondrial myopathy; Pompe disease; McArdles disease); inherited renal diseases (polycystic kidney diseases); pulmonary diseases (adult cystic fibrosis); inborn errors of metabolism (phenylketonuria; urea cycle disorders); lysosomal storage disorders and enzyme replacement therapy. Additional educational opportunities include didactic teaching lectures, clinical conferences and reports, required reading materials, literature reviews, and close interactions with dedicated genetic faculty members. 

Biochemical Genetics Rotation

Director: Hilary Vernon, M.D., Ph.D.

生化遗传学轮转旨在提高遗传居民对各种先天性代谢错误(IEM)的诊断和管理技能和经验，包括门诊设置的异常新生儿筛查. This rotation is complementary to the core clinical training during metabolic inpatient and consultation services. Residents rotate through PCRU outpatient clinic (aminoacidopathies and organic acidemias), LSD Clinic and ERT center (lysosomal storage disorders), metabolic disorder clinic, and neurogenetics clinic (mitochondrial and peroxisomal disorders; lipid storage disorders), KKI biochemical genetics laboratory, and Maryland State Newborn Screen program. Other educational opportunities include didactic teaching lectures, clinical conferences and reports, required reading materials, literature reviews, and close interactions with dedicated metabolic faculty members. 

Clinical Genomics

Director: Nara Sobreira, M.D., Ph.D.

新一代测序(NGS)已被广泛用于鉴定数百种遗传疾病的分子病因. Recently, NGS has moved into the clinic and has become a crucial diagnostic tool. Therefore, it’s critical for clinical geneticists to be familiar with NGS technology, data analysis tools, issues related to data interpretation, genetic counseling and related ethnical issues. 本课程的主要目标是为学习者提供一个强大的NGS知识基础，包括全外显子组测序(WES)和全基因组测序(WGS)。, 通过参加教学和实践学习练习，熟悉该技术作为研究和临床工具的用途. This rotation takes advantage of exciting, unique, mckusick - nathan遗传医学研究所的尖端资源，包括贝勒-约翰霍普金斯孟德尔遗传学中心, Clinical Genomics Center, Center for Inherited Disease Research and NIH funded multi-year project to sequence Mendelian disorders.

该轮实习医师将(1)通过阅读重要的NGS/基因鉴定历史文献参与自主学习(2)访问CIDR测序核心，通过教学讲座和集成基因组学查看器(IGV)的实践经验体验NGS技术(3)参加孟德尔项目表型审查委员会会议(4)使用phenoDB进行序列数据分析(5)使用关键数据库和分析程序(OMIM)进行实践培训, Gene Ontology, Genecards, Mouse Genome Informatics (MGI) database, PubMed, Uniprot, gerp, polyphen, SIFT)(6)对NGS结果进行模拟遗传咨询(7)参加关于基于WES/ wgs的基因检测相关伦理问题的小组讨论.

Neurogenetics

Director: Tao Wang, M.D., Ph.D.

这个神经遗传学选修课是由门诊轮流在多个专科诊所照顾患者遗传神经, neurobehavioral disorders and neuromuscular disorders. Working closely with faculty who are experts in individual disorders at Johns Hopkins Hospital, Kennedy Krieger Institute, and other affiliated training sites, trainees are expected to see a large variety of neurogenetic disorders including known genetic syndromes, neurodevelopmental, neurobehavioral, neuromuscular and neurodegenerative disorders in patients of all age groups. This rotation aims to enhance diagnostic skills,受训者是否了解这些神经遗传疾病的管理原则和表型谱. This is an excellent opportunity to learn genetic mechanisms and molecular bases. Residents typically rotate through 4-8 clinics specialized for neurogenetics disorders during this 2 or 4 weeks of rotation. Other educational opportunities include didactic teaching lectures, clinical case conferences, required reading materials, literature reviews, and interactions with dedicated genetic faculty members. 

Participating Clinics and Centers: Down Syndrome clinic, Rett Syndrome clinic, Tuberous Sclerosis clinic, Smith-Limli-Opitz (SLO) disease clinic, Ataxia clinic, Alzheimer disease clinic, Huntington disease clinic, Center for Autism and Related Disorders (CARD), Center for Development and Learning (CDL), Center for Inherited Eye diseases, Leukodystrophy clinic, Muscular Dystrophy (MDA) clinic, Neurobehavioral Unit, Neurofibromatosis center, and general Neurogenetics clinics at both Johns Hopkins Hospital and Kennedy Krieger Institute. 

Syndromes and Malformations

Director: Joann Bodurtha, M.D.

遗传综合征和畸形轮转旨在(1)提高学员在畸形学方面的体检技能;(2)提高学员以证据为基础的临床综合征识别的知识和能力，并提高准确性;(3)拓宽学员对遗传综合征表型谱及其胚胎学基础的理解, (4) engage in ongoing management for patients with established diagnoses; and develop lifelong skills in counseling about and accrual to clinical trials and research protocols with novel therapies. 这个轮转是对核心临床培训的补充，在必要的轮转期间，畸形咨询服务和一般遗传学诊所. Residents rotate through 4-6 clinics for genetics disorders. Other educational opportunities include didactic teaching lectures, clinical conferences and reports, required reading materials, literature reviews, and interactions with dedicated genetic faculty members. 

Participating Clinics: Ataxia clinic; Center for Autism and Related Disorders (CARD); Center for Development and Learning (CDL); KKI neurobehavioral unit (NBU); KKI neurogenetics clinic (Fragile X syndrome); Down syndrome clinic; Rett syndrome clinic; Tuberous Sclerosis clinic; Muscular Dystrophy clinic; fetal alcohol syndrome clinic; cleft palate clinic; spinal bifida clinic; Sturge-Weber and vascular malformations clinic; skeletal dysplasia clinic; connective tissue disorders clinic; osteogenesis imperfect clinic; Albright Osteodystrophy clinic; neurofibromatosis center.