Individualized Clinical Genetics Training Opportunities

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, 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. 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, 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.

Recent advancements in medicine recognize the genetic contributions to diseases in all ages. Adult Genetics is a rapidly growing field of medical genetics that provides specialized care for adults with genetic disorders or genetic predispositions to diseases. These conditions may be adult onset such as cardiomyopathy, 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, clinical skills and experience to recognize and effectively manage common genetics conditions in adults. 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: 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.

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. 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.

Next-generation sequencing (NGS) has been used extensively to identify the molecular etiologies of hundreds of inherited disorders. 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. 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. This rotation takes advantage of exciting, unique, cutting edge resources at the McKusick-Nathans Institute of Genetic Medicine including the Baylor-Johns Hopkins Center for Mendelian Genetics, Clinical Genomics Center, Center for Inherited Disease Research and NIH funded multi-year project to sequence Mendelian disorders.

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, Mouse Genome Informatics (MGI) database, 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.


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, 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,have trainees understand the principle of management and gain appreciation of phenotypic spectrum of these neurogeneticc disorders. 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.

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. 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.