International Usher Syndrome Conference

Boston Children'S Hospital, Boston MA

Investigators

Abstract

Project Summary Usher Syndrome (USH) is a devastating incurable syndrome resulting in deafness, vestibular dysfunction, and retinal degeneration leading to blindness (retinitis pigmentosa). Usher Syndrome represents the most common genetic cause of deaf blindness; it affects 20% of infants with bilateral moderate to profound congenital sensorineural hearing loss, 15-30% of patients with retinitis pigmentosa and 50% of deaf-blind children. The Usher gene family includes 12 genes encoding for proteins expressed in both the photoreceptor cells of the retina and the sensory hair cells of the inner ear. Belonging to different families, the Usher proteins interact in a network that appears to be essential for the proper development, maturation and survival of the photoreceptor and inner ear hair cells. This proposal is written to support the next International Symposium on Usher Syndrome. This conference will be the fifth of its kind and is meant to convene scientists whose research and interest is closely related to Usher Syndrome, and families and patients who suffer from the disease. It will take place in Nijmegen, Netherland, June 19-21, 2025 and will include two scientific days and one family day. The goal of the symposium is to bring together scientists, clinicians and Usher patients and their families in view of 1) promoting research in emerging areas of Usher Syndrome with the goals of advancing diagnosis, prevention, treatment, and cure; 2) To present new research findings and develop future research strategies among scientists involved in Usher Syndrome research; (3) To promote and enhance collaboration among researchers and clinicians from different institutions and different research focus areas who study Usher Syndrome. (4) To educate families affected by Usher Syndrome about research advances and to promote collaboration between these families and Usher syndrome researchers. The Symposium will support the mission of the NIDCD and NEI by focusing on 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 mission of the NIH by including scientists, clinicians and patients/families with USH to encourage collaboration on both a formal and informal basis.