Catalog description: This course will provide a theoretical frame
work for understanding the fundamental concepts of human genetics emphasizing
molecular aspects and pathogenetic mechanisms, using research and analysis tools
in human genetics.
Expanded description and explanation: This survey course will provide
a theoretical framework for understanding the fundamental concepts of human
genetics as well as advanced technical tools used in today's research in
human genetics through lectures and literature discussion on a wide range of classical and modern
topics such as cytogenetics, formal genetics, population genetics, linkage
analysis, positional cloning, genomic imprinting, genetic screening and
gene therapy. The focus of the course will be to understand the human genome
structure and organization, the molecular pathogenesis at the gene and
chromosome level, and
the application of genetic knowledge and advanced tools such as gene therapy in modern medicine.
This course complements the topics covered in GMS
6015, Human Genetics II.
Evaluation of student performance: By discussion participation and
oral and written assignments.
Faculty: Dr. Margaret
Wallace will be the course director. She will be assisted by UF faculty who are expert in human and molecular genetics.
Summary of Topics: (15 meetings)
Pedigree Analysis and Non-Mendelian genetics
Cytogenetics
Polymorphism Analysis
Physical Mapping and the Human Genome
Mutation Analysis and Pathogenesis (germline and somatic)
Genomic Imprinting
Viral and Non-Viral Gene Therapy
Pharmacogenomics
Assigned readings: The major reference is "Human Molecular
Genetics", by Strachan and Read, 2nd ed. (Wiley-Liss). Additional reading
assignments will include pertinent review articles and original research papers,
as assigned by the faculty.
Subsequent semesters: The goal of the human genetics module is
not only to provide the conceptual underpinnings of the genetic approach
as it is used to elucidate fundamental concepts in biology and medicine,
but also to explore the biological mechanisms that cells and organisms
employ in the life process. In subsequent semesters different problems
will become the subject of the genetic analysis discussed in the module
as well as the introduction of new genetic concepts which will emerge from
genomic and other areas of research. Thus, similar and new genetic approaches
will be used to elucidate a different set of biologically relevant problems.
As the modules mature and evolve they will be suitable for repeat credit.
Repeat of a module will only be allowed by consent of instructor.
updated 12-6-02 WTM