International Usher Syndrome Conference

描述（由申请人提供）：Usher综合征（USH）是致盲的最常见遗传原因，是一种无法治愈的综合征，可导致耳聋、前庭功能障碍和导致失明的视网膜变性（色素性视网膜炎，RP）。它影响20%的双侧中度至重度先天性感音神经性听力损失的婴儿，15-30%的RP患者和50%的双盲儿童。USH基因家族包括12个编码蛋白质的基因，这些蛋白质对于耳蜗中的感觉毛细胞和视网膜中的光感受器的正常发育、成熟和存活是必需的。任何一种突变 USH基因可由于整个蛋白质网络的功能障碍而导致耳聋和失明，从而导致毛细胞和感光细胞发育和功能异常。我们建议召开一次国际Usher综合征研讨会，将科学家、临床医生和USH患者及其家属聚集在一起，以：1）促进USH诊断、预防、治疗和治愈的新兴领域的研究; 2）提出新的研究结果并制定未来的研究策略; 3）促进来自不同机构和不同研究重点领域的研究人员和临床医生之间的合作。（4）教育受Usher综合征影响的患者/家庭了解研究进展，并促进这些家庭与USH研究人员之间的合作; 5）使研究人员和临床医生了解USH患者和家庭的需求，以指导新的研究重点。国际Usher综合征研讨会将召集200-225名科学家和临床医生和100-125个家庭在约瑟夫B。2014年7月9日至12日，马萨诸塞州波士顿哈佛医学院马丁会议中心。第一天和第二天将有一个与诊断学，流行病学，自然史，基础临床前研究和目前批准的临床试验有关的科学计划。第三天是家庭日，包括诊断介绍，基因治疗介绍，最新转化研究的总结和更新，以及从专业和患者角度致力于疾病心理方面的下午。

DESCRIPTION (provided by applicant): 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.