University of Pittsburgh


Fundamentals of Basic Science

Human Genetics

November 27, 2017-December 20, 2017
22 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.

The goals of the course are for students to:

  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 normal development and 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.

The 52 faculty are from 21 departments: Anesthesiology, Developmental Biology, Family Medicine, Hematology Oncology, Human Genetics, Infectious Diseases and Microbiology, Medicine, Microbiology and Molecular Genetics, Neurobiology, Neurology, Obstetrics, Gynecology and Reproductive Sciences, Ophthalmology, Oral Biology (School of Dental Medicine), Oral and Maxillofacial Surgery, Pathology, Pediatrics, Pharmacology, Psychiatry, Surgery, and Urology.

Educational Methods


Lectures Workshops Case presentations Problem-based learning
Team-based learning sessions Patient conferences Review sessions Self-directed learning



Evaluation is based on attendance and participation in PBL, three workshops, and TBLs (20%). Also, the performance 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) (75%).

Grading: This course comprises 30% of the grade for the Fundamentals of Basic Science Block, Section 2. The block section is graded Satisfactory, Unsatisfactory.

Faculty Note

Cynthia Lance-Jones, PhD, is a recipient of the Kenneth E. Schuit Master Educator Award. In addition, Dr. Lance-Jones, and Donald DeFranco, PhD, are members of the UPSOM Academy of Master Educators.