October 10, 2022-October 28, 2022
15 half days
Course Director
Saleem Khan, PhD
Professor
Department of Microbiology and Molecular Genetics
khan@pitt.edu
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:
- Understand gene structure and human genome organization and function.
- Appreciate the complexities of gene regulation and epigenetics in normal and disease states.
- Understand the basic principles of cytogenetics and how chromosomal abnormalities result in disease.
- Recognize familial patterns of inheritance and the role of pedigrees for both classical Mendelian and common disease.
- Understand the basis of mutation and genetic variation, and their impact on human diversity and health.
- Understand the impact of prenatal and newborn screening on the diagnosis and management of genetic disease.
- Understand the genetic basis of cancer.
- Appreciate the importance of communicating with and learning from patients and their caregivers about risk, diagnosis and coping with genetic disease.
- 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
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.