University of Pittsburgh
Fundamentals of Basic Science

Human Genetics
MS-1

November 16, 2009 - December 14, 2009
22 half days

Paula Monaghan-Nichols, PhD

Course Director
Paula Monaghan-Nichols, PhD
Assistant Professor
Department of Neurobiology
monaghan@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.

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 38 faculty are from 11 departments: Human Genetics (School of Public Health), Microbiology and Molecular Genetics, Neurobiology, Obstetrics, Gynecology and Reproductive Sciences (Department Chair), Oral Biology (School of Dental Medicine), Pathology, Pediatrics (Division of Medical Genetics [Division Chief]), Pharmacology, Surgery, and Urology.

Educational Methods

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

Evaluation

Evaluation is based on attendance and participation in small group sessions (20%) and performance on written examinations (80%).
Grading: This course comprises 34% of the grade for the Fundamentals of Basic Science Block, Section 2. The block section is graded Honors, Satisfactory, Unsatisfactory.

Faculty Note

Course faculty member Cynthia Lance-Jones, PhD, is a recipient of the Kenneth E. Schuit Award, recognizing the Dean’s Master Educators.