International Usher Syndrome Conference

国际亚瑟综合症会议

• 批准号: 8720233
• 负责人: Gwenaelle S Geleoc
• 金额: $ 5.98万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-04-01 至 2015-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8720233
• 关键词: Accounting; Affect; Area; Auditory; Bilateral; Blindness; Boston; Child; Clinical; Clinical Trials; Cochlea; Coffee; Collaborations; Communication impairment; Communities; Defect; Development; Diagnosis; Diagnostic; Disease; Ensure; Epidemiology; Equilibrium; Event; Failure; Family; Fees; Fellowship; Functional disorder; Funding; Future; Gene Family; Genes; Genetic; Goals; Hair Cells; Hearing; Hearing Impaired Persons; Hereditary Disease; Human; Infant; Institution; International; Knowledge; Learning; Massachusetts; Medical; Mission; Molecular; Mutation; National Institute on Deafness and Other Communication Disorders; Natural History; Outcome; Participant; Patients; Photoreceptors; Prevention; Price; Proteins; Public Health; Rare Diseases; Research; Research Personnel; Research Priority; Retina; Retinal Degeneration; Retinitis Pigmentosa; Science; Scientist; Sensorineural Hearing Loss; Sensory; Sensory Hair; Syndrome; Therapeutic; Therapeutic Intervention; Therapy Clinical Trials; Time; Translational Research; United States National Institutes of Health; Update; Usher Syndrome; Usher Syndrome, Type 2A; Vision; Work; base; blind; clinical Diagnosis; deafness; design; early childhood; experience; gene therapy; hearing impairment; improved; medical schools; meetings; posters; pre-clinical research; programs; psychologic; public health relevance; success; symposium

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.

描述（由申请人提供）：亚瑟综合症 (USH) 是导致耳聋失明的最常见遗传原因，是一种无法治愈的综合症，会导致耳聋、前庭功能障碍和视网膜变性，从而导致失明（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婴儿、15-30% 的 RP 患者和 50% 的聋盲儿童。 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、成熟和生存至关重要。任何突变 USH基因会因整个蛋白质网络功能障碍而导致耳聋和失明，导致毛细胞和感光器发育和功能异常。我们提议召开国际亚瑟综合症研讨会，将科学家、临床医生以及亚瑟综合症患者和家属聚集在一起，以： 1) 促进亚瑟综合症诊断、预防、治疗和治愈新兴领域的研究； 2）提出新的研究成果并制定未来的研究策略； (3) 促进来自不同机构、不同研究重点领域的 USH 研究人员和临床医生之间的合作； (4) 对受亚瑟综合症影响的患者/家庭进行有关研究进展的教育，并促进这些家庭与亚瑟综合症研究人员之间的合作； 5) 让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。国际亚瑟综合症研讨会将于 2014 年 7 月 9 日至 12 日在马萨诸塞州波士顿哈佛医学院的 Joseph B. Martin 会议中心召开，届时将有 200-225 名科学家和临床医生以及 100-125 个家庭参加。第一天和第二天将举行科学会议与诊断、流行病学、自然史、基础临床前研究和目前批准的临床试验相关的计划。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，以及一个下午从专业和患者的角度专门讨论该疾病的心理方面。