Gene Markers


Research in the Gene Expression Laboratory is concerned with identification of genes and the localization of these genes to the human gene map. Syndromes currently under study include:

  • Usher
  • Branchio-oto-renal
  • Autosomal dominant progressive hearing loss
  • Nonsydromic recessive hearing loss

A major focus of the research program has been on Usher syndrome. Eleven different Usher genes have been discovered; one has been identified as the myosin VIIa gene on chromosome 11q, and a second is a novel basement membrane protein called Usherin. Our laboratory is now attempting to isolate and clone other Usher genes. The series of Usher families under study is the largest ever assembled.

Future research will be centered on the causes of variation in the expression of the Usher genes, on the development of animal models (with Dominic Cosgrove, Ph.D.) and on methods of gene therapy.

This project includes collaboration with Dr. Richard Smith at the University of Iowa to map genes causing progressive hearing loss. This project started in the spring of 2008 and we have already identified several new genes.

Branchio-oto-renal syndrome has another major project of the laboratory. One gene has been located on chromosome 8. Unfortunately, funding for this project has lapsed and the study has been put in abeyance until the necessary funding is obtained.

Non-syndromic recessive hearing loss is another major study focus. Non-syndromic recessive hearing loss accounts for 80% of all hereditary cases. It has been estimated that 15 to 300 genes may be involved. Our work is now directed towards finding these genes.