SCIE 681
The Genetic Basis of Inherited Disorders

Michael McAlear

Course Description

Over the last two decades advances in modern molecular genetics has provided insights into the underlying genetic basis for many of humankind’s inherited disorders.  The information associated with the sequencing of the human genome combined with sophisticated gene mapping strategies is yielding an increasing number of genetic variations (mutations) that are associated with specific human diseases.  This course will cover these advances, and how they relate to dominant, recessive, and sex-linked mutations, single gene disorders such as cystic fibrosis and Huntington’s disease, as well as multi-factorial disorders including cancer, heart disease and diabetes.   We will also consider how advances in genetic testing and screening can apply to early diagnosis and the prospect of individualized medicine.   Furthermore, we will discuss how specific mutations vary between sub-populations, and impact that these variations have on the interactions between individuals and their environment.  Students will be expected to research one of these topics in depth, and to give an in-class presentation as well as submit a paper. A background in basic molecular biology (equivalent to introductory college level biology) is recommended.  Readings will include review articles, primary scientific literature and chapters form texts on the different diseases.

Course Texts
The World of the Cell, 6th Edition by Becker et al.
iGenetics by Peter Russell
Genome: The Autobiography of a Species in 23 Chapters by Matt Ridley

Video: A Question of Genes

Class Test I    25%
Class Test II   25%
Presentation   25%
Paper               25%
Course Schedule
Class 1 Introduction to Cellular and Molecular Biology
Genome: Preface, Ch 1
Class 2 Basic Genetics, Genomics
Genome: Ch 3
Class 3 Mutations, Epigenetics, Environment
Genome: Ch 5
Class 4 Single gene disorders: Cystic Fibrosis, Huntington's Disease
Genome: Ch 4
Class 5 Genetic Selection: Sicle Cell Anemia and Malaria
Genome: Ch 9
Class 6 Fall Break
Class 7 Class Test I
Class 8 Cancer, oncogenes, tumor suppressors
Genome: Ch 17
Class 9 Cancer cont'd
Class 10 Aging, Alzheimer's
Genome: Ch 14, 19
Class 11 Heart Disease
Class 12 Gene Chips, Gene therapy, and individualized medicine
Genome: Ch 18
Class 13 Class Test II