Categorical Medical Genetics Program


The categorical medical genetics residency at Johns Hopkins is structured to include 18 months of concentrated clinical training and up to 18 months of individualized curriculum with protected time for mentored research training in basic, clinical and/or translational medical genetics. 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 NIH-affiliated training sites for categorical residents in the Hopkins-NIH consortium. Additionally, all residents are required to participate in continuity care for a subset of genetics patients during the entire residency.

Length of Training

 Program Time           

Medical Genetics Residency and Fellowship
Year Year 1 Year 2 Year 3 Year 4 Year 5
Month 1 to 6 7 to 12 1 to 6 7 to 12 1 to 6 7 to 12 1 to 6 7 to 12 1 to 6 7 to 12
Internal Medicine Genetics 5 years IM Genetics IM Genetics IM Genetics Research
Pediatrics Genetics 4 years Pediatrics Genetics Pediatrics Genetics Pediatrics Genetics IC    
Research Fellowship
MFM Genetics 4 years Genetics MFM Genetics Research    
Medical Biochemical Genetics 1 year Genetics                
  Core Clinical Genetics Training
  Individualized Curriculum (IC)
  Mentored Research Training
  Training in Pediatrics, IM, or MFM

Outline of Core Training Curriculum

Clinical Genetics Core Rotations (15 months) Months
Dysmorphology Consultation and Clinics Rotation 4
Metabolism Inpatient Service, Consultation, and Clinics Rotation 4
Combined Dysmorphology and Metabolism Rotation 1
Clinical Genetics Mentoring and Teaching Rotation 0.5
Cancer Genetics 1
Prenatal Genetics 1
Adult Genetics 1
Clinical Genomics 1
Biochemical Genetics Laboratory 0.5 
Cytogenetics Laboratory 0.5
Molecular Genetics Laboratory 0.5 
Clinical Genetics Elective Rotations (3 months)
Adult Genetics
Biochemical Genetics
Clinical Genomics
Syndromes & Malformations 
Laboratory Genetics
Other Elective Rotations
Clinical genetics rotations at NIH-affiliated training sites *
Undiagnosed Disease Program (NHGRI) 1
Clinical Genetics Inpatient and Consultation Service (NHGRI) 1
Clinical Genetics Consultation Service (CNMC) 1
Mentored Research Training in Genetics (18 months)
*Consortium Trainees Only. NHGRI: National Human Genome Research Institute; CNMC: Children's National Medical Center

Rotations in 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 NHGRI-affiliated training sites during their genetics residency training.

 Topic  Programs
Adult Genetics Adult Cystic Fibrosis Program
Alzheimer Disease Clinic
Center for Inherited Heart Diseases
Huntington Disease Clinic
Lipid Disorders Clinic
Polycystic Kidney Diseases Clinic
Telomere Disorders Clinic
Cancer Genetics Breast and Ovarian Cancer Clinic
Colon Cancer Clinic
Craniofacial Disorders
Connective Tissue Disorders
Skeletal Dysplasia
Albright Osteodystrophy Clinic
Connective Tissues Disorders Clinic
Craniofacial and Cleft Palate Clinic
Osteogenesis Imperfecta Clinic
Greenberg Center for Skeletal Dysplasias
Spinal Bifida Clinic
Inborn Errors of Metabolism Barth Syndrome Clinic
Inborn Errors of Metabolism Clinic (PCRU)
Lysosomal Storage Disorders Clinic
Enzyme Replacement Therapy Center
Maryland Newborn Screening Program
Smith-Lemli-Opitz Syndrome Clinic
Neurogenetics Ataxia Clinic
Center for Autism and Related Disorders
Center for Development and Learning
Center for Inherited Eye Diseases
Down Syndrome Clinic
Epigenetics Clinic
Leukodystrophy Clinic
Muscular Dystrophy Clinic
Neurobehavioral Unit (NBU)
Neurogenetics Clinic
Neurofibromatosis Center
Rett Syndrome Clinic
Smith-Lemli-Opitz Clinic
Tuberous Sclerosis Clinic
Other Genetics Clinics Cystic Fibrosis Center
Fetal Alcohol Clinic
Sturge Weber and Vascular Malformations Clinic
Prenatal Genetics Prenatal Genetics and Counseling Center

Didactic Teaching

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

  • Current Topics in Clinical Genetics
  • Advanced Topics in Human Genetics
  • Molecular Mechanisms of Diseases
  • Clinical Genetics Case Conference
  • Director's Clinical Genetics Round
  • Institute of Genetic Medicine Journal Club
  • Institute of Genetic Medicine Seminar series

Educational Courses and Meetings

Residents have opportunities to participate in genetics training courses and national genetics conferences during their residency.

  • Bar Harbor Short Course on Medical and Experimental Mammalian Genetics
  • Little People of America (LPA) conference
  • North America Metabolic Academy (NAMA) conference
  • Annual meetings of American Society of Human Genetics
  • Annual meetings of American College of Medical Genetics

Quality Improvement 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 curriculum.

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 in Genetics

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 NIH.