我们的培训项目认识到我们的住院医生在之前的培训中来自不同的背景, experience and interest. 除了在实习期间完成核心培训目标, many residents are interested in developing their own specialized areas of expertise and acquire relevant clinical and research experiences in genetics.

To meet these demands, we have organized campus-wide clinical genetics resources at Johns Hopkins to establish trainee-centered and themed genetics rotations tailored to the individual interests and needs of the residents. 这些轮转是综合的，最大限度地提高了临床经验和自主学习. 每个轮转集中在一个共同的主题，在临床遗传学，如成人遗传学, Biochemical Genetics, Syndromes and Malformations, 神经遗传学和临床基因组学. 与个别轮岗主任一起工作, residents play an important role in building their own themed rotations in order to optimize their individualized learning experiences.

Adult Genetics Rotation

Director: Patrick Sosnay, M.D.

最近医学的进步认识到遗传对所有年龄的疾病的贡献. Adult Genetics is a rapidly growing field of medical genetics that provides specialized care for adults with genetic disorders or genetic predispositions to diseases. 这些情况可能是成人发病，如心肌病, certain cancer syndromes and Huntington disease or childhood onset conditions that persist into adulthood such as phenylketonuria, Marfan syndrome and neurofibromatosis. The adult genetics elective provides a unique opportunity for resident trainees from medical genetics and other clinical specialties to acquire necessary knowledge, 临床技能和经验，以识别和有效地管理常见的遗传条件在成人. Residents rotate through multiple specialty clinics at the Johns Hopkins Hospital and affiliated clinics under the supervision of faculty members who are experts in these conditions.

Participating Clinics: 心血管遗传学(遗传性心律失常), 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. 额外的教育机会包括教学讲座, clinical conferences and reports, required reading materials, literature reviews, 并与专门的基因教员密切互动. 

Biochemical Genetics Rotation

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

Biochemical genetics rotation aims to enhance the diagnostic and management skills and experience of genetic residents to a wide variety of inborn errors of metabolism (IEM) including abnormal newborn screens at the outpatient setting. 这种轮转是对代谢住院和咨询服务期间的核心临床培训的补充. 住院医师在PCRU门诊轮转(氨基酸酸中毒和有机酸中毒), LSD门诊及ERT中心(溶酶体贮积障碍), metabolic disorder clinic, and neurogenetics clinic (mitochondrial and peroxisomal disorders; lipid storage disorders), KKI生化遗传学实验室, 以及马里兰州新生儿筛查项目. 其他教育机会包括教学讲座, clinical conferences and reports, required reading materials, literature reviews, 并与专门负责代谢的教员密切互动. 

Clinical Genomics

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

Next-generation sequencing (NGS) has been used extensively to identify the molecular etiologies of hundreds of inherited disorders. 最近，NGS已进入临床，并已成为一个重要的诊断工具. Therefore, 对于临床遗传学家来说，熟悉NGS技术至关重要, data analysis tools, 与数据解释相关的问题, 遗传咨询和相关的伦理问题. The main goals are for the learner to gain a strong knowledge base about NGS including whole exome sequencing (WES) and whole genome sequencing (WGS), by taking a part in didactic and hands-on learning exercises and to become familiar with the technique’s uses as a research and clinical tool. 这种轮换利用了令人兴奋的优势, unique, cutting edge resources at the McKusick-Nathans Institute of Genetic Medicine including the Baylor-Johns Hopkins Center for Mendelian Genetics, Clinical Genomics Center, 遗传疾病研究中心和美国国立卫生研究院资助了一项为期多年的孟德尔疾病测序项目.

Residents on this rotation will (1) participate in self-directed learning by reading key historical NGS/gene identification literature (2) visit CIDR sequencing core to experience NGS technology with didactic lectures and hand-on experience with the Integrated Genomics Viewer (IGV) (3) attend phenotype review committee meeting for Mendel project (4) perform sequence data analyses using phenoDB (5) perform hand-on training using key databases and analysis programs (OMIM, Gene Ontology, Genecards, 小鼠基因组信息(MGI)数据库, PubMed, Uniprot, gerp, polyphen, SIFT) (6) conduct mock genetic counseling session on NGS results  (7) participate in a panel of discussion on ethnical issues related to WES/WGS-based genetic testing.

Neurogenetics

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

This neurogenetics elective is comprised ofoutpatient clinic rotations among multiple specialty clinics taking care of patients with inherited neurological, 神经行为障碍和神经肌肉障碍. 与约翰霍普金斯医院的个体疾病专家密切合作, Kennedy Krieger Institute, 以及其他附属培训网站, 学员预计将看到各种各样的神经遗传疾病，包括已知的遗传综合征, neurodevelopmental, neurobehavioral, 所有年龄组患者的神经肌肉和神经退行性疾病. 这种轮岗旨在提高诊断技能,have trainees understand the principle of management and gain appreciation of phenotypic spectrum of these neurogeneticc disorders. 这是一个学习遗传机制和分子基础的绝佳机会. 在这2 - 4周的轮转期间，住院医生通常会在4-8家神经遗传疾病专科诊所轮转. 其他教育机会包括教学讲座, clinical case conferences, required reading materials, literature reviews, 以及与专门的基因教员的互动. 

参与诊所及中心: Down Syndrome clinic, Rett Syndrome clinic, Tuberous Sclerosis clinic, Smith-Limli-Opitz (SLO)疾病诊所, Ataxia clinic, Alzheimer disease clinic, Huntington disease clinic, 自闭症及相关疾病中心(CARD), 发展与学习中心, Center for Inherited Eye diseases, Leukodystrophy clinic, Muscular Dystrophy (MDA) clinic, Neurobehavioral Unit, Neurofibromatosis center, 以及约翰霍普金斯医院和肯尼迪克里格研究所的普通神经遗传学诊所. 

Syndromes and Malformations

Director: Joann Bodurtha, M.D.

The Genetic Syndromes and Malformations rotation aim to (1) enhance the trainee’s physical examination skills in Dysmorphology (2) increase the trainee’s knowledge and capacity to make evidence-based clinical syndrome identification with increasing accuracy (3) broaden the trainee’s understanding of the phenotypic spectrum of genetic syndromes and their embryologic bases, (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. This rotation is complementary to core clinical training during required rotations on Dysmorphology consultation service and in general genetics clinic. 住院医生轮流在4-6家诊所治疗遗传疾病. 其他教育机会包括教学讲座, clinical conferences and reports, required reading materials, literature reviews, 以及与专门的基因教员的互动. 

Participating Clinics: Ataxia clinic; 自闭症及相关疾病中心(CARD); 发展与学习中心; 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.