INVITED AND SPECIAL SESSIONS
Wednesday, October 26
8:00 PM-10:00 PM
Concurrent Invited Sessions I (12-18)
SESSION 18 - Skeletal Dysplasias: Genetics, Biological Mechanisms, and Counseling
Ballroom I-J
Moderator: Sally A. Camper, University of Michigan,
Ann Arbor
Skeletal dysplasias are a heterogeneous group of defects that arise from problems in development or growth of bone or cartilage and affect approximately 3 in 10,000 newborns. There are 33 different classification groups of osteochondrodysplasias in humans. Genes known to contribute to skeletal dysplasia are varied and include fibroblast growth factor receptor, collagens, hormones and their receptors, and genes whose products are involved in carbohydrate metabolism. While there are a number of genes cloned and still more phenotypes with assigned chromosomal locations, the etiology of most of the distinct forms of skeletal dysplasia is unknown. Because skeletal dysplasias are genetically heterogeneous, model organisms are likely to be invaluable tools for understanding the genetic basis of disease in molecular terms, as well as for generating diagnosis and treatment strategies.
8:00 PM Latest developments in skeletal dysplasias and research resources: Skeletal Dysplasia Registry. Clair A. Francomano, National Institutes of Health, Baltimore, MD.
8:24 PM Mechanism of action of secreted molecules in osteoblast cell fate and chondrocyte proliferation. Monica Justice, Baylor College of Medicine, Houston, TX.
8:48 PM High-bone-mass disease and WNT signaling. Michael P. Whyte, Shriners Hospital for Children, St. Louis, MO.
9:12 PM Zebrafish as a model for human skeletal dysplasias. Shannon Fisher, Johns Hopkins University School of Medicine, Baltimore, MD.
9:36 PM Living with achondroplasia in an average-sized world: Quality of life and attitudes toward genetic counseling. Barbara B. Biesecker, National Human Genome Research Institute, Bethesda, MD.
