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Current Topics in Molecular Genetics I

NIH - Bethesda, MD
3rd term
Health Behavior and Society
1 credits
Academic Year:
2021 - 2022
Instruction Method:
Class Times:
  • Wednesday,  4:00 - 4:50pm
Auditors Allowed:
Yes, with instructor consent
Grading Restriction:
Letter Grade or Pass/Fail
Course Instructor:
  • Ellen Macnamara
Lori Erby

415.610-.613; Must be enrolled in ScM in Genetic Counseling Program


Provides a review of molecular diagnosis of common hereditary or neoplastic disorders for which DNA-based diagnosis is now in routine use, including FGFR3 disorders, fetal blood typing, thrombophilias, hemochromatosis, fragile X syndrome, polyglutamine disorders, hereditary breast cancers, Charcot Marie Tooth and spinal muscular atrophy, Prader Willi and Angelman syndromes, mitochondrial diseases, Duchenne and Becker muscular dystrophy, cystic fibrosis, and Smith-Lemli-Opitz Syndrome. Includes instruction in genetic risk prediction, using linkage and Bayesian analysis as well as DNA forensics and paternity testing.

Learning Objectives:

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

  1. Describe the types of techniques used in molecular genetic diagnostic laboratories, including the limitations of each assay
  2. Calculate residual risks after molecular testing
  3. Discuss how to interpret molecular genetic results
Methods of Assessment:

Two oral presentations (50%) and class participation (50%)


Final grade applies to all terms

Instructor Consent:

No consent required

Special Comments:

Students must register for both 3rd and 4th term.