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Introduction to Medical Genetics I

NIH - Bethesda, MD
3rd term
Health Behavior and Society
2 credits
Academic Year:
2022 - 2023
Instruction Method:
Class Times:
  • Tuesday,  5:30 - 7:30pm
Auditors Allowed:
Grading Restriction:
Letter Grade or Pass/Fail
Course Instructor:
  • Ellen Macnamara
Suzanne Hart

415.611 and 415.612


Provides a foundation in medical genetics. Focuses on teaching genetic disorders using a systems approach. Presents an overview of the disease process and differential diagnosis of related genetic disorders. Includes the following topics: birth defects/embryology, prenatal diagnosis, pulmonary disorders, muscle diseases, hemoglobinopathies, ocular diseases, kidney disorders, craniosynostoses, skin disorders, deafness, because knowledge of the genetic contribution to disorders within these categories is critical to the work of genetic counselors and medical geneticists. Prepares students for the board certification exam given by the American Board of Genetic Counseling upon completion of the ScM in genetic counseling.

Learning Objectives:

Upon successfully completing this course, students will be able to:

  1. Explain the role of alcohol in causing birth defects
  2. Explain the types of prenatal screening and diagnosis
  3. Explain genetics in limb anomalies and dysmorphic syndromes, pulmonary disorders, kidney disorders, skin disorders, eye disorders, and deafness
  4. Compile differential diagnoses based upon major findings of a patient
  5. Distinguish among genetic conditions specific to a body system
  6. Differentiate the features of the more common genetic disorders
  7. Target family and medical histories to disease systems
Methods of Assessment:

in-class midterm (50%); in-class final exam (50%); class participation: Students are expected to attend every class. Students who miss more than 4 classes will receive a letter grade lower than the score on the final exam. Students who miss more than 6 classes will receive an F.

Enrollment Restriction:

No undergraduates

Instructor Consent:

Consent required for some students

Consent Note:

Required for students other than ScM students

For consent, contact: