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.
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.