Recruiting Research Subjects for a Genetics of Otosclerosis Study at HEI

Otosclerosis is a disease characterized by abnormal growth in the three tiny bones of the middle ear. The end result is that the bones become fused together and cease to move properly with sound wave stimulation. The only treatment for the fusion of these bones is surgical correction.

 

Our research study entitled “Genetics of Otosclerosis” will be conducted by the House Ear Institute’s Laboratory for Genetics of Hereditary Ear Disorders, under the direction of Rick A. Friedman, M.D., Ph.D. The study will investigate the genetic basis of the disease through analysis using “chips” or “DNA microarrays” that can assay millions of genetic markers simultaneously.

 

Studies that enroll thousands of patients can sometimes result in more dramatic success compared with smaller studies. For this project, we are collecting DNA samples from 2,000 patients diagnosed with otosclerosis as well as 2,000 individuals who do not have the disease. We will measure the frequency of each genetic variant in the group of patients and compare this frequency to the frequency found in individuals without the disease (known as “controls”).

 

In addition to this study, House Ear Institute is investigating the genetic basis for a number of inner ear diseases. Therefore, if you are a qualified study participant, we will ask whether or not you will allow us to use your DNA sample as a “control” or “unaffected” individual for other diseases of the inner ear, such as Meniere’s disease, noise-induced hearing loss, or any other disease whose genetics are studied in a case/control fashion, i.e. comparing unaffected individuals to affected individuals. Your willingness to participate in our other studies will in no way affect your contribution to the primary goal of this study, which is the identification of genes that predispose people to otosclerosis.

 

To participate or learn more, contact Cory White at cwhite@hei.org or Jeff Ohmen Ph.D. at johmen@hei.org.