Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research

描述（由申请人提供）：本申请申请为科学会议“Joubert综合征双年会议：推进转化纤毛病研究，加强临床护理”提供支持。会议将于2011年7月13日至14日在佛罗里达州奥兰多的双树酒店会议中心举行。本次申请的首席研究员是Dan Doherty医学博士。华盛顿大学医学院儿科学助理教授，Joubert综合征及相关疾病基金会（JSRDF）科学咨询委员会主席。由Doherty博士和Karen Tompkins（文学学士/文学学士）共同主持。此次会议代表了JSRDF与科学界之间的全面伙伴关系。Joubert综合征（JS）是一种使人衰弱的神经发育障碍，其特征是明显的后脑畸形（“磨牙征”），并伴有张力低下、发育迟缓、共济失调，以及囊性肾病、视网膜营养不良、肝纤维化和多指畸形等可变特征。JS是一种被称为“纤毛病”的新疾病组的成员，因为所有10种致病基因都与初级纤毛/基底体细胞器的功能有关。然而，关于JS基因如何在脑、肾、视网膜和肝脏发育/功能中发挥作用以及它们是如何被需要的，以及原发性纤毛/基础体功能的破坏如何导致这些器官的疾病，我们知之甚少。尽管确定了10个致病基因，但已知基因占患者的比例小于50%，这突出了进一步研究的必要性。JSRDF成立于1994年，是唯一专注于JS的全球倡导组织，目前拥有600多名成员。在过去的20年里，JSRDF会议将家庭聚集在一起，相互支持，并与医疗专业人员联系。最近，JSRDF已经认识到它在促进和塑造JS研究方面的关键作用。拟议的与家庭会议相关的为期两天的科学会议是JSRDF发挥这一作用的理想机制。会议的目的是：1)根据现有证据和专家意见，更新2004年关于JS患者诊断、评估、监测和治疗的医疗建议；2)根据家庭和调查人员的意见，制定未来研究的议程；3)教育家庭和专业人员关于JS的诊断、评估、治疗和研究。医疗保健建议和研究议程将报告给美国国立卫生研究院，并通过邮件、网站和在同行评审期刊上发表的方式传播给家庭和专业人员。未来的会议将集中讨论如何将快速的基础科学进展转化为临床有用的、特定疾病的治疗方法。除了直接改善JS患者的生活外，JS研究对人类疾病也有广泛的影响，因为负责JS的基因也与自闭症、精神分裂症、视网膜失明和肥胖等更常见的疾病有关。

DESCRIPTION (Provided by Applicant): This application requests support for the scientific meeting, "Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, Enhancing Clinical Care." The conference will be held on July 13- 14, 2011 at the DoubleTree Hotel Conference Center in Orlando, FL. The principal investigator of the application is Dan Doherty, M.D./Ph.D., Assistant Professor of Pediatrics, University of Washington School of Medicine, and Chair of the Joubert Syndrome and Related Disorders Foundation (JSRDF) Scientific Advisory Committee. Co-chaired by Dr. Doherty and Karen Tompkins, B.A./B.Ed., President of the JSRDF, the conference represents a full partnership between the JSRDF and the scientific community. Joubert syndrome (JS) is a debilitating neurodevelopmental disorder characterized by a distinctive hindbrain malformation (the "molar tooth sign") combined with hypotonia, developmental delay, ataxia, and variable features such as cystic renal disease, retinal dystrophy, hepatic fibrosis, and polydactyly. JS is a member of a new group of disorders called "ciliopathies" because all ten causal genes have been implicated in the function of the primary cilium/basal body organelle. Nonetheless, little is known about how JS genes function in and are required for brain, kidney, retina, and liver development/function, nor how disruption of primary cilium/basal body function leads to diseases of these organs. Despite the identification of ten causal genes, the known genes account for <50% of patients, highlighting the need for additional research. Founded in 1994, the JSRDF is the only worldwide advocacy organization focusing on JS, now with more than 600 members. For the past 20 years, JSRDF conferences have brought together families for mutual support and to connect with medical professionals. More recently, the JSRDF has recognized its key role in promoting and shaping research into JS. The proposed two-day scientific conference linked to the family meeting is an ideal mechanism to develop this role for the JSRDF. The aims of the conference are to: 1) Update the 2004 healthcare recommendations for diagnosis, evaluation, monitoring, and treatment of patients with JS, based on available evidence and expert opinion; 2) Generate an agenda for future research with input from families and investigators; 3) Educate families and professionals about JS diagnosis, evaluation, treatment, as well as research. The healthcare recommendations and research agenda will be reported to NIH and disseminated to families and professionals via mailings, web sites, and publication in peer-reviewed journals. Future conferences will focus on translating the rapid basic science advances into clinically useful, disease-specific treatments. In addition to directly improving the lives of individuals with JS, JS research has broad implications for human disease, since the genes responsible for JS have also been implicated in more common disorders such as autism, schizophrenia, retinal blindness, and obesity. PROJECT NARRATIVE: Joubert syndrome and related disorders (JSRD) provide a model for studying intellectual disability, ataxic cerebral palsy, retinal dystrophy, cystic kidney disease, and liver fibrosis. The proposed conference will: 1) directly benefit individuals with JSRD; 2) improve our understanding of the development/function of the brain, retina, kidney and liver; and 3) facilitate the prevention and treatment of more common disorders of these organ systems (e.g., autism, schizophrenia, retinal blindness, cystic kidney disease, and obesity), benefiting society as a whole.