Genetic Analysis of Complex Human Diseases

GENETIC ANALYSIS OF COMPLEX HUMAN DISEASES is a comprehensive four-day course directed toward physician-scientists and other medical researchers. The course will introduce state-of-the-art approaches for the mapping and characterization of human inherited disorders with an emphasis on the mapping of genes involved in common and genetically complex disease phenotypes. The overall focus is a broad-based understanding of the problems and solutions to the design and execution of disease gene mapping projects using Human Genome Project resources.

Goals of the Course:
The primary goal of this course is to provide participants with an overview of approaches to identifying genes involved in complex human diseases. At the end of the course, participants should be able to identify the key components of a study team, and communicate effectively with specialists in various areas to design and execute a study. Learning objectives for the course include:

To instruct participants about the necessary steps and procedures used in ascertaining, collecting, and databasing pedigree, demographic, family history, environmental risk factor and clinical information for genetic disease mapping studies. The impact of genetic research on patients and their families will also be discussed.

To provide background information in the basic techniques of linkage analysis. The discussion will include problems and confounding issues that commonly arise.

To provide an introduction to the various strategies, designs, and methods of analysis needed to dissect the genetic basis of common and genetically complex (e.g. multifactorial or polygenic) traits. Examples are drawn from successful applications in human genetic disease. Discussions will include current approaches to both qualitative and quantitative trait phenotype assignment, methods of analysis, interpretation, follow-up and refinement of the preliminary linkage and/or association data, investigation of power, examination of heterogeneity, and gene/gene and gene/environment interactions. This course will not include any bench or "wet" laboratory experience.

To introduce newly evolving "genome-wide" study methodologies from the laboratory and statistical analysis perspectives including SNP-based (single nucleotide polymorphism) genome-wide association mapping and "genomic convergence" (integration of linkage, association, expression, and gene function data).

To incorporate discussion of the participants' individual research interests. Participants will be encouraged to bring preliminary information and/or data for both formal and informal group discussion and instructor consultation.

The course is co-organized by the Miami Institute for Human Genomics and the Vanderbilt University Center for Human Genetics Research

William K. Scott, Organizer
Margaret A. Pericak-Vance, Co-Organizer
Jonathan L. Haines, Co-Organizer