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Categorical Medical Genetics Program


The medical genetics residency at Johns Hopkins is structured to include 18 months of concentrated clinical training and 18 months of individualized curriculum with protected time for mentored clinical and/or basic research training. For residents in the categorical track, core clinical genetics training is concentrated during the first 18 months. For residents in each of the combined training tracks, the clinical genetics training is structured into blocks, which alternates with the clinical training in the other primary specialties. Clinical genetics training is completed at the Johns Hopkins-affiliated hospitals for residents in the combined training tracks and at Johns Hopkins and National Institutes of Health (NIH)-affiliated training sites for categorical residents in the Hopkins-NIH consortium. Additionally, all residents are required to participate in continuity clinical care for a subset of genetics patients during the entire residency.

Training Curriculum

Required clinical genetics rotations (15 months) Months
Dysmorphology (40% outpatient; 60% inpatient) 4
Metabolism (20% outpatient; 80% inpatient) 4
Combined dysmorphology and metabolism 1
Mentoring and teaching rotation 0.5
Cancer genetics 1
Prenatal genetics 1
Adult genetics 1
Clinical genomics 1
Clinical genetics laboratories:    
Cytogenetics   0.5  
Biochemical genetics 0.5
Molecular genetics and genomics 0.5  
Elective clinical genetics rotations (3 months)
Syndromes and malformations  
Biochemical genetics
Genetic therapies
Individualized elective
Clinical genetics rotations at NIH-affiliated training sites *
Undiagnosed Disease Program (NHGRI)
Genetics Inpatient and Consult Services (NHGRI)
Dysmorphology Inpatient Rotation (CNMC)
Metabolism Inpatient Rotation (CNMC)
Ophthalmic Genetics Clinic (NHGRI)
Lipid Disorders Clinic (NHGRI)
Mentored research training in genetics (18 months)
*Consortium trainees only. NHGRI: National Human Genome Research Institute. CNMC: Children's National Medical Center.

Genetics Clinics

Residents will have the opportunities to rotate through a large number of specialty genetics clinics at The Johns Hopkins Hospital, Kennedy Krieger Institute and National Human Genome Research Institute (NHGRI)-affiliated training sites during their genetics residency training.

  • Down Syndrome Clinic
  • Cancer Genetics Clinic
  • Rett Syndrome Clinic
  • Connective Tissues Disorders Clinic
  • Neurogenetics Clinic
  • Center for Inherited Heart Diseases
  • Tuberous Sclerosis Clinic
  • Lipid Disorders Clinic
  • Comprehensive Neurofibromatosis Center
  • Polycystic Kidney Diseases Clinic
  • Center for Autism and Related Disorders
  • Adrenoleukodystrophy Clinic
  • Center for Development and Learning
  • Metabolic Disorders Clinic
  • Fetal Alcohol Clinic
  • Lysosomal Storage Disorders Clinic
  • Neurobehavioral Unit
  • Enzyme Replacement Therapy Center
  • Muscular Dystrophy Clinic
  • Smith-Lemli-Opitz Clinic
  • Cleft Palate Clinic
  • General Genetics Clinic
  • Spinal Bifida Clinic
  • Epigenetics Clinic
  • Albright Osteodystrophy Clinic
  • Ataxia Clinic
  • Osteogenesis Imperfecta Clinic
  • Huntington’s Disease Clinic
  • Greenberg Center for Skeletal Dysplasias
  • Center for Inherited Eye Diseases
  • Cystic Fibrosis Center
  • Sturge-Weber and Vascular Malformations Clinic

Didactic Teaching

Residents are required to participate in core didactic teaching and educational programs during their residency.

  • Advanced Topics in Human Genetics (graduate course)
  • Molecular Mechanisms of Diseases (graduate course)
  • Current Topics in Clinical Genetics (monthly)
  • Brown Bag Clinical Round (monthly)
  • Clinical Genetics Case Conference and Chart Review (weekly)
  • Institute of Genetic Medicine Journal Club (Weekly)
  • Institute of Genetic Medicine Seminar series (monthly)

Educational Courses and Meetings

Residents will have opportunities to participate in outside genetics training courses and national genetics meetings during their residency.

  • The Bar Harbor Short Course on Medical and Experimental Mammalian Genetics (Johns Hopkins University and The Jackson Laboratory, Bar Harbor, Maine)
  • Little People of America conference
  • The North America Metabolic Academy conference (Society for Inherited Metabolic Diseases)
  • Annual meetings of American Society of Human Genetics
  • Annual meetings of American College of Medical Genetics and Genomics

Quality Improvement Projects and Scholarly Activities

Residents are required to participate in quality improvement projects and scholarly activities during their residency training.

Individualized Training Curriculum

In addition to core training in clinical genetics, residents are encouraged to develop their own interests and specialized areas of expertise in medical genetics through structured and individualized training curriculums. 

Genetics Residents as Teacher (GREAT)

Residents will participate in educational workshops to improve their clinical teaching skills, gain practical experience by teaching genetics and contribute to the development of a clinical genetics teaching website and resident handbook. 

Mentored Research Training

Residents will have 18 months of protected research time to develop their own clinical and/or basic research projects during the second and third years of training. This mentored research training is supported by a NIH T32 research training grant to the Johns Hopkins University and other institutional funds. The consortium training with the NHGRI Medical Genetics Residency Program has greatly expanded genetics research training opportunities with world-renowned investigators in medical genetics at Johns Hopkins and the NIH.