415.867.92
Current Topics in Molecular Genetics II
Location
NIH - Bethesda, MD
Term
4th Term
Department
Health, Behavior and Society
Credit(s)
1
Academic Year
2024 - 2025
Instruction Method
In-person
Wednesday, 4:00 - 4:50pm
Auditors Allowed
Yes, with instructor consent
Available to Undergraduate
No
Grading Restriction
Letter Grade or Pass/Fail
Contact Name
Frequency Schedule
Every Year
Resources
Prerequisite
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:
- Compare the types of techniques used in molecular genetic diagnostic laboratories, including the limitations of each assay
- 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
- Calculate residual risks after molecular testing
- Discuss the issues underlying molecular diagnosis for a variety of disorders
- Discuss how to interpret molecular genetic results
Methods of Assessment
This course is evaluated as follows:
- 100% Exam(s)
Jointly Offered With