MS-1: Human Genetics

October 11, 2021-October 28, 2021
14 half days

Course Director
Saleem Khan, PhD
Department of Microbiology and Molecular Genetics

Course Description

This course is designed to provide students with a basic understanding of the concepts of human genetics and genomics, in preparation for later application in the context of human development and congenital and acquired disease.

Course Goals:

  1. Understand gene structure and human genome organization and function.
  2. Appreciate the complexities of gene regulation and epigenetics in normal and disease states.
  3. Understand the basic principles of cytogenetics and how chromosomal abnormalities result in disease.
  4. Recognize familial patterns of inheritance and the role of pedigrees for both classical Mendelian and common disease.
  5. Understand the basis of mutation and genetic variation, and their impact on human diversity and health.
  6. Understand the impact of prenatal and newborn screening on the diagnosis and management of genetic disease.
  7. Understand the genetic basis of cancer.
  8. Appreciate the importance of communicating with and learning from patients and their caregivers about risk, diagnosis and coping with genetic disease.
  9. Understand that genetics provides the basis for a future of “personalized medicine”, i.e. disease prevention, diagnosis, and therapy based on an individual’s genotypes.

Educational Methods

  • Lectures
  • Team-based learning sessions
  • Workshops
  • Patient conferences
  • Review sessions
  • Problem-based learning


Evaluation is based on attendance and participation in PBL, two workshops, and TBL (16%). Performance is also based on one exam, which includes a written multiple-choice portion and online portion that contains questions generated by the National Board of Medical Examiners (NBME) (40%).

Grading: This course comprises 32% of the grade for the Foundations of Medicine Block, Section 2. Grading for the block is Satisfactory or Unsatisfactory.

Faculty Note

William Walker is the recipient of the Sheldon Adler Award for Innovation. In addition, Dr. Donald DeFranco, PhD is a member of the UPSOM Academy of Master Educators.