Course Description
An advanced course on concepts and current issues of human genetics.
Additional Requirements for Graduate Students:
Graduate students will be required to write an NIH-style grant
proposal that will address unanswered questions in human
genetics.
Athena Title
Human Genetics
Prerequisite
GENE 3200-3200D or GENE 3200H
Semester Course Offered
Offered spring
Grading System
A - F (Traditional)
Course Objectives
After completion of the course, students will gain an understanding of concepts and current issues related to human genetics. The course will be primarily based on research literature while supplemental reading from textbooks and review articles will be provided to introduce relevant backgrounds and concepts. The course will be organized into topics, aiming to familiarize students with different aspects of human genetics, including the human genome, genome organization, regulation of gene expression, genetic variation, human evolutionary history, genetics of Mendelian diseases, genetics of complex traits, pedigree analysis and mapping of disease genes, genetics of specific diseases, applications of genetic technology, and ethical issues. A few sessions of the course will focus on specific human genetic disorders to illuminate the application of general human genetics principles. The following aspects of each disease will be discussed: (1) the methods used for establishing the inheritance pattern; (2) the methods used for mapping of the affected gene(s); (3) the cellular and molecular basis of the disease; (4) the strategies to diagnose and/or treat the disease; (5) ethical and/or societal issues related to that particular disease. The mechanism of instruction will be primarily lectures, supplemented with in-class discussion, student presentations, debates, and other forms of active learning activities. The main resources for the course will be research papers, review articles, online databases, and photocopies of textbook chapters. Successful students will develop a strong foundation for continued medical studies and/or research in biomedical sciences at the graduate level.
Topical Outline
I. Overview of human genetics A. The human genome, DNA, and chromosomes B. Expression of the human genome and its regulation C. Gametogenesis, embryonic development, stem cells, and cell differentiation D. Patterns of genetic variation E. Mutation and recombination F. Demographic history of human populations G. The encounter of modern and archaic humans (Neanderthals) H. Humans and primates (What makes human unique?) I. Genetic adaptation to local environment during human evolution J. Mendelian disease and genetic mapping K. Complex disease/traits and Genome-wide association analysis L. Genome-reading technologies and genetic testing M. Gene therapy and gene editing N. Ethical, legal, and social issues of human genetics II. Case studies in human genetic disorders A. Single gene (Mendelian) disorders 1. Cystic fibrosis 2. Trinucleotide repeat disorders, Huntington disease 3. Disorders of blood cells anemias and hemoglobinopathies 4. Skeletal disorders, polydactyly, Marfan syndrome, achondroplasia B. Complex disease/traits 1. Cardiovascular diseases and levels of blood lipid 2. Height 3. Diabetes 4. Obesity 5. Cancer 6. Psychiatric disorders
Syllabus