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(申请人提供)：USH综合征(USH)是导致失聪的最常见的遗传原因，是一种无法治愈的综合征，导致失聪、前庭功能障碍和视网膜变性导致失明(视网膜色素变性，RP)。它影响20%的婴儿双侧中到重度先天性感音神经性聋，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，这些蛋白质对耳蜗内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。任何一种基因突变 由于整个蛋白质网络的功能障碍，USH基因可导致耳聋和失明，导致毛细胞和感光细胞发育和功能异常。我们建议召开国际Usher综合征研讨会，将科学家、临床医生和USH患者及家属聚集在一起：1)促进USH诊断、预防、治疗和治疗新兴领域的研究；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)向受Usher综合征影响的患者/家庭介绍研究进展，并促进这些家庭和USH研究人员之间的合作；5)使研究人员和临床医生意识到USH患者和家庭的需求，以指导新的研究重点。亚瑟综合征国际研讨会将于2014年7月9日至12日在马萨诸塞州波士顿哈佛医学院约瑟夫·B·马丁会议中心召集200-225名科学家和临床医生以及100-125个家庭。第一天和第二天将以与诊断学、流行病学、自然病史、基础临床前研究和目前批准的临床试验有关的科学计划为特色。第三天是家庭日，包括关于诊断的陈述，基因疗法的介绍，对最新翻译研究的总结和更新，以及从专业和患者的角度致力于疾病的心理方面的下午。