Hometown: Davenport, Iowa

Alma Mater: Ball State Univesity, Biology

Identifying genetic components of otosclerosis

Otosclerosis is a complex disease that results in a common form of conductive hearing loss due to impaired mobility of the stapes. Stapedial motion becomes compromised secondary to invasion of otosclerotic foci into the stapedio-vestibular joint. Although environmental factors and genetic causes have been implicated in this process, the pathogenesis of otosclerosis remains poorly understood. To date, several loci have been mapped in six families segregating as autosomal dominant inheritance, but no disease causing mutation has been found. The first locus, OTSC1, is located on chromosome 15q25-26, OTSC2 on chromosome 7q34-36, OTSC3 on chromosome 6p21.3-22.3, OTSC4 on chromosome 16q21-23.2, OTSC5 on chromosome 3q23-24, and OTSC7 on chromosome 6q13-16.1.

Currently we are working on microarray analysis to determine differentially expressed genes in otosclerotic stapedial footplate samples. 108 genes were found to be differentially expressed in otosclerotic stapes footplate samples. Further analysis is being conducted to determine what role these candidate genes may play in the development of the disease. Also we are performing a whole genome association study to look for genes associated with otosclerosis in different populations. Further analysis will be conducted to determine what role candidate genes from these two studies may play in the development of the disease.