Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research

朱伯特综合症双年会：推进转化性纤毛病研究

• 批准号: 8774705
• 负责人: DANIEL DOHERTY
• 金额: $ 0.5万
• 依托单位: JOUBERT SYNDROME/RELATED DISORDERS FDN
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-02-01 至 2015-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8774705
• 关键词: Accounting; Address; Advisory Committees; Area; Ataxia; Autistic Disorder; Basic Science; Blindness; Brain; Cerebral Palsy; Cilia; Communities; Cystic Kidney Diseases; Development; Developmental Delay Disorders; Disease; Doctor of Medicine; Doctor of Philosophy; Expert Opinion; Family; Foundations; Future; Gastroenterologist; Genes; Healthcare; Individual; Intellectual functioning disability; Internet; Joubert syndrome; Journals; Kidney; Link; Liver; Liver Fibrosis; Mails; Medical; Molar tooth; Monitor; Muscle hypotonia; Neurodevelopmental Disorder; Obesity; Ophthalmologist; Organ; Organelles; Pamphlets; Patients; Pediatrics; Peer Review; Polydactyly; Prevention; Principal Investigator; Publications; Publishing; Recommendation; Reporting; Request for Applications; Research; Research Personnel; Retina; Retinal; Retinal Dystrophy; Role; Schizophrenia; Shapes; Societies; Study models; Translating; United States National Institutes of Health; Universities; Update; Washington; advocacy organizations; base; body system; ciliopathy; clinical care; diagnosis evaluation; gene function; hindbrain; human disease; improved; kinetosome; malformation; medical schools; meetings; member; pediatrician; professor; radiologist; symposium; web page; web site

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.

描述(申请人提供)：此申请请求支持的科学会议，“Joubert综合征双年度会议：推进转移性纤毛病研究，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双树酒店会议中心举行。该申请的首席研究员是Dan Doherty，医学博士/博士，华盛顿大学医学院儿科学助理教授，Joubert综合征和相关疾病基金会(JSRDF)科学咨询委员会主席。这次会议由Doherty博士和JSRDF主席Karen Tompkins，B.A./B.Ed共同主持，代表了JSRDF和科学界之间的全面伙伴关系。Joubert综合征(JS)是一种衰弱的神经发育障碍，其特征是以独特的后脑畸形为特征，合并低张性、发育迟缓、共济失调和各种特征，如囊性肾脏疾病、视网膜营养不良、肝纤维化和多指。JS是一组新的被称为“纤毛疾病”的疾病的成员，因为所有10个致病基因都与初级纤毛/基底体细胞器的功能有关。然而，对于JS基因在大脑、肾脏、视网膜和肝脏发育/功能中的功能和所需的功能，以及初级纤毛/基础身体功能的破坏如何导致这些器官的疾病，我们知之甚少。尽管已经确定了10个致病基因，但已知的基因占患者总数的50%，这突显了进一步研究的必要性。JSRDF成立于1994年，是世界上唯一一个关注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，并与医疗专业人员建立联系。最近，JSRDF认识到它在促进和形成对JS的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发挥JSRDF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年对JS患者的诊断、评估、监测和治疗的保健建议；2)根据家庭和研究人员的意见，为未来的研究制定议程；3)教育家庭和专业人员有关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NIH，并通过邮件、网站和同行评议期刊上的出版物向家庭和专业人员传播。未来的会议将集中于将快速的基础科学进步转化为临床上有用的、针对疾病的治疗方法。除了直接改善JS患者的生活外，JS研究还对人类疾病具有广泛的影响，因为导致JS的基因也与更常见的疾病有关，如自闭症、精神分裂症、视网膜失明和肥胖。