Usher Syndrome (USH), the most common genetic cause of deaf-blindness, is an incurable syndrome that results in deafness, vestibular dysfunction, and retinal degeneration leading to blindness (retinitis pigmentosa, RP). It affects 20% of infants with bilateral moderate to profound congenital sensorineural hearing loss, 15-30% of patients with RP and 50% of deaf-blind children. The USH gene family includes 12 genes encoding for proteins that are essential for the proper development, maturation and survival of sensory hair cells in the cochlea and photoreceptors in the retina. Mutations in any of the USH genes can cause deafness and blindness due to dysfunction of the entire protein network, resulting in abnormal hair cell and photoreceptor development and function. We propose an International Usher Syndrome Symposium that will bring together scientists, clinicians and USH patients and families to: 1) Promote research in emerging areas of USH diagnosis, prevention, treatment, and cure;2) Present new research findings and develop future research strategies;(3) Promote collaboration among researchers and clinicians from different institutions and different research focus areas who study USH;(4) Educate patients/families affected by Usher Syndrome about research advances and promote collaboration between these families and USH researchers;5) Make researchers and clinicians aware of the needs of USH patients and families to direct new research priorities. The International Usher Syndrome Symposium will convene 200-225 scientists and clinicians and 100-125 families at the Joseph B. Martin Conference Center at Harvard Medical School in Boston, Massachusetts from July 9-12, 2014. Days one and two will feature a scientific program related to diagnostics, epidemiology, natural history, basic preclinical research and currently approved clinical trials. Day three is a Family day and includes presentations on diagnosis, introduction to gene therapy, a summary and update of the latest translational research and an afternoon dedicated to the psychological aspects of the disease from both the professional and patient standpoint.
The Symposium will support the mission of NIDCD and NEI by focusing on uncovering and sharing new knowledge of a syndrome that affects hearing, balance and vision, and results in significant communication impairments. The Symposium will support the public health and educational missions of the NIH by including scientists, clinicians and patients/families with USH to encourage collaboration on both a formal and informal basis for all participants.