Clinical research

Faculty members in the Department of Human Genetics pursue clinical research in order to provide better treatment and service. Currently, breast cancer risk and prevention, and Smith-Magenis Syndrome are two major investigations.

Breast cancer risk and prevention

John Quillin is a co-investigator on two ongoing studies. Supported by the National Cancer Institute, one investigation (principal investigator: Joann Bodurtha) examines the impact of a brief breast cancer risk intervention on mammography practices through a randomized clinical trial design. Another study (principal investigator: Diane Wilson) investigates the psychosocial factors affecting preventive health behaviors of women whose mothers have been diagnosed with breast cancer. He also serves as a consultant on the “BRIDGE to Better Health” study (principal investigator: Steve Danish). This study tests the ability of health genealogy education of high school students to increase appreciation of familial risk for cancer and to promote healthy behaviors.

Smith-Magenis Syndrome

Smith-Magenis syndrome is a complex genetic disorder caused by deletion or mutation of the RAI1 gene. Many individuals have a small deletion involving chromosome 17p11.2 that includes RAI1, while others may only have a small mutation in the gene. Individuals with SMS have developmental delays, speech delay, sleep disturbance, significant behavioral problems and craniofacial abnormalities, in addition to a variety of other issues. SMS research is being conducted in Dr. Sarah H. Elsea’s laboratory to evaluate genotype:phenotype correlations, create animal models of the syndrome, develop new diagnostic techniques, and determine to the role RAI1 plays in development and behavior.