- Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
- Joubert syndrome with congenital hepatic fibrosis
News & Events
ORDR Co-Sponsored Conferences
Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care, Monday, October 21, 2013 - Tuesday, October 22, 2013
Location: Westin Boston Waterfront Hotel, Boston, MA
Description: The development of updated healthcare recommendations will be a valuable product from the conference, as currently, there is little comprehensive evidence about the natural history of JSRD available to guide clinical management decisions, and in particular, the necessary frequency of screening for retinal, renal, and hepatic complications, which can be life-threatening. In addition, development of a research agenda going forward will be a valuable asset. As a result of the 2011 Scientific Conference, it was recommended that a study of mortality in JSRD was necessary; investigators have since partnered with the JSRDF to launch a campaign “Mortality matters” to identify the causes of death for those children and adults with JSRD who have died from its complications. In addition, there has been rapid progress in identifying genetic causes for JSRD, with now 19 documented genes, a significant increase over what was known about the genetic causes in 2011. This genetic information is providing some windows into genotype-phenotype correlations.
2011 Neurobiology of Disease in Children Symposium: Childhood Ataxia, Tuesday, October 25, 2011
Location: Savannah, GA
Description: The overall aims of this NDC symposia are to (1) review scientific advances and determine their relevance to current and future clinical practice in child neurology; (2) coordinate efforts among various clinical and basic science disciplines, lay organizations, and the NIH to review current research initiatives and define future directions; and (3) disseminate symposia proceedings to ensure that clinical and basic science disciplines are informed about scientific advances, current research initiatives, and future directions. NDC symposia have brought together clinicians, scientists, caregivers, and NIH program officers to determine how research findings can be translated to enhance clinical understanding and affect clinical practice.
Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, Wednesday, July 13, 2011 - Saturday, July 16, 2011
Location: Doubletree Hotel Conference Center , Orlando, FL
Description: The health care 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 Joubert syndrome (JS), JS research has broad implications for human disease because the genes responsible for JS have also been implicated in more common disorders such as autism, schizophrenia, retinal blindness, and obesity.
- Joubert Syndrome & Related Disorders Foundation
10th Biennial Conference
July 13-16, 2011