While acoustic neuromas are relatively rare and usually not fatal, the symptoms can be severe. This brain tumor is located on the hearing nerve and can result in hearing loss, ringing in the ears and loss of balance.
Thousands of people nationwide are afflicted with the disease each year, but its exact causes remain a mystery.
In what is believed to be first large scale study on the genetic origins of the disease, Elizabeth B. Claus, Ph.D., M.D., a professor in the Department of Biostatistics at the Yale School of Public Health and an attending neurosurgeon at Brigham and Women’s Hospital in Boston, began collecting online questionnaire data as well as DNA samples from patients with the disease at the Acoustic Neuroma Association’s (ANA) three-day annual symposium in Los Angeles in August.
This collection was supported with pilot funding from the Acoustic Neuroma Association and represents the first step in a unique effort to undertake a genetic epidemiology study using the internet as well as the social ties and support networks that already exist within a patient communities such as the ANA.
“The support and enthusiasm of the ANA, patients, and patient advocates was amazing. In five hours we enrolled and collected samples on 110 persons with at least as many persons contacting us to join the study within the following week,” Claus said. “I think this highlights how eager patients are to take an active role in helping to move research forward.”
Claus plans to utilize the data collected at this meeting to generate preliminary data for a larger grant application that would fund data collection for over 1,000 patients with acoustic neuroma. The overall goal of the study is to study genetic variants associated with the disease.
Claus, meanwhile, is involved in other studies tracing the origins of cancerous and non-cancerous brain tumors. She is the lead investigator of a study on meningioma, the most common primary brain tumor in the United States and is also a collaborator in GLIOGENE, a study of genes associated with glioma, a malignant brain tumor.
The study is unique in its efforts to identify and test effective web-based recruitment and dissemination strategies for collaborative genetic epidemiologic studies.
“In addition to attempting to gain knowledge about genes specifically associated with acoustic neuroma risk, we hope to use acoustic neuromas as a disease model for internet based epidemiologic research,” she said. “Empowering patients to take a more active role in clinical research is a win-win for both patient and researcher alike.”