415.612.92
Introduction to Human Genetics II

Location
NIH - Bethesda, MD
Term
2nd Term
Department
Health, Behavior and Society
Credit(s)
2
Academic Year
2023 - 2024
Instruction Method
In-person
Class Time(s)
Thursday, 4:30 - 6:30pm
Auditors Allowed
No
Available to Undergraduate
No
Grading Restriction
Letter Grade or Pass/Fail
Course Instructor(s)
Lori Erby
Course Instructor(s)
Leslie Biesecker
Contact Name
Lori Erby
Contact Email
lori.erby@nih.gov
Frequency Schedule
Every Year
Prerequisite

415.611

Description
415.610 addresses the chromosomal basis of heredity, chromosomes and genes, tools of human molecular genetics, single gene inheritance, variation, polymorphism and mutation, genes in populations and genes in families. 415.611 presents the role of genetic counseling in health care and emphasizes the essential components of prenatal, pediatric, and adult genetics services. Indications for referral and genetics education and counseling components are illustrated using care examples. Clinical skills and tools are taught including family, medical and development history taking and pedigree construction. Additional case management skills such as the choice of laboratory and test interpretation, and issues in billing and reimbursment of genetic counseling services are addressed. 415.612 -613 expand on the previous two courses to examine the Hemoglobinapathics and Thalassemias as models of molecular pathology, the molecular/biochemical basis of genetic disease, genetics of cancer, gene mapping
Learning Objectives
Upon successfully completing this course, students will be able to:
  1. Discuss basic structure and function of chromosomes and genes
  2. Recognize inheritance patterns in pedigrees and assess risks
  3. Discuss when and how screening and diagnostic tests are performed and how to interpret results of such tests
  4. Discuss basic mechanisms of mutation and how mutations can lead to disease
  5. Discuss how the inheritance pattern of a disease is determined by the molecular mechanisms by which mutations alter gene function and cause the disease
  6. Discuss the features of common genetic diseases seen in genetic counseling practice, including natural history and management
Methods of Assessment
This course is evaluated as follows:
  • 33% Midterm
  • 33% Final Exam
  • 33% Participation
Instructor Consent
Consent required for some students
Consent Note
Consent required for students not in the ScM in Genetic Counseling program.
Consent Contact
lori.erby@nih.gov
Jointly Offered With
National Inst. Health