International Usher Syndrome Conference

Boston Children'S Hospital, Boston MA

Investigators

Abstract

Project Summary: 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. There are12 genes encoding for proteins essential for the proper development, maturation and survival of sensory hair cells in the cochlea and photoreceptors in the retina. USH gene mutations cause dysfunction of the entire protein network, resulting in deafness, blindness and vestibular dysfunction. We request support for the Second International Symposium on Usher Syndrome 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 Second International Symposium on Usher Syndrome will be held in conjunction with the 10th Usher Syndrome Family Conference in Mainz, Germany, July 19-21, 2018. The International Usher Syndrome Symposium will convene 200-225 scientists and clinicians and 100-125 families. Days one and two will feature a scientific program that will include presentations and discussions related to genetics and diagnostics, cellular and molecular aspects of the proteins affected in the disease, animal models of Usher syndrome and advancement in research on therapies for the retinal degeneration and hearing loss. The third day will be a Family day and it will include presentations that will summarize the scientific symposium for the general audience and discuss diagnosis, cellular and molecular biology of Usher syndrome, gene therapy and clinical trials. 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.