ACTIVITIES

International Symposium on Usher Syndrome and Related Diseases. May 2010

27/05/2010 - 29/05/2010

About the symposium

Usher syndrome was firstly described by Albrecht von Graefe in 1858 althogh its heritability was established by Charles H. Usher in 1935. It is a rare disorder defined by the association of sensorineural hearing loss and visual impairment due to retinitis pigmentosa and, sometimes, vestibular dysfunction. In the last decades, a high clinical and genetic heterogeneity has been shown and at least nine genes have been demonstrated to be involved in the disease. Usher syndrome is the most common cause of inherited deaf-blindness and has an enormous impact on the quality of life. Hearing and vision are essential for communication and to remain oriented within the environment. Loss of both hearing and vision often leads to a loss of independence. Also, individuals with the syndrome are at a disadvantage in their work environment which nowadays often requires intense use of communication skills and information technologies.

The aim of the symposium is to make an update of the current and future clinical and molecular diagnostic of the disorder, to provide insights into the molecular pathogenesis of the syndrome and into the complex mechanisms that underlie hearing and vision .The symposium will emphasize on the current advances and strategies for rehabilitation and therapy.