Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research

描述（由申请人提供）：本申请请求支持科学会议，“Joubert综合征两年一次的会议：推进转化性纤毛病研究，加强临床护理。“会议将于2011年7月13日至14日在佛罗里达州奥兰多的DoubleTree酒店会议中心举行。哲学博士、华盛顿大学医学院儿科助理教授，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，B.A./ B.Ed.，作为JSRDF的主席，这次会议代表了JSRDF和科学界之间的全面伙伴关系。 Joubert综合征（JS）是一种衰弱性神经发育障碍，其特征为独特的后脑畸形（“臼齿征”），伴有张力减退、发育迟缓、共济失调和各种特征，如囊性肾病、视网膜营养不良、肝纤维化和多指（趾）畸形。 JS是一组称为“纤毛病”的新疾病的成员，因为所有10个致病基因都与初级纤毛/基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/功能中起作用以及所需的作用，以及初级纤毛/基体功能的破坏如何导致这些器官的疾病，人们知之甚少。 尽管鉴定出了10个致病基因，但已知基因占患者的50%，这突出了进一步研究的必要性。 JSRDF成立于1994年，是全球唯一一个专注于JS的倡导组织，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联系的为期两天的科学会议是为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年诊断，评估，监测和治疗JS患者的医疗建议; 2）通过家庭和调查人员的投入为未来的研究制定议程; 3）教育家庭和专业人员关于JS诊断，评估，治疗以及研究。 医疗保健建议和研究议程将报告给NIH，并通过邮件、网站和同行评审期刊上的出版物传播给家庭和专业人员。 未来的会议将集中于将快速的基础科学进展转化为临床有用的疾病特异性治疗。 除了直接改善JS患者的生活外，JS研究对人类疾病具有广泛的影响，因为负责JS的基因也涉及更常见的疾病，如自闭症，精神分裂症，视网膜失明和肥胖症。

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.