Skip Navigation

Course Directory

Current Topics in Molecular Genetics II

NIH - Bethesda, MD
4th 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
Undergrads Allowed:
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


Builds upon the material presented in 415.866. 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, PraderWilli 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. Compare the types of techniques used in molecular genetic diagnostic laboratories, including the limitations of each assay
  2. Discuss the issues underlying molecular diagnosis for a variety of disorders, including Fragile X syndrome, cystic fibrosis, achondroplasia, fetal Rh typing, colorectal cancer, and thrombophilias
  3. Calculate residual risks after molecular testing
  4. Discuss the issues underlying molecular diagnosis for a variety of disorders
  5. Discuss how to interpret molecular genetic results
Methods of Assessment:

In-class examination - 100%


Final grade applies to all terms

Instructor Consent:

No consent required