Joubert syndrome with oculorenal anomalies
Other Names for this Disease
- Arima syndrome
- Cerebro-oculo-hepato-renal syndrome
- Chorioretinal coloboma with cerebellar vermis aplasia
- Dekaban Arima syndrome
- Joubert syndrome 5
- Joubert Syndrome & Related Disorders Foundation
10th Biennial Conference
July 13-16, 2011
The Spectrum of Caregiving and Palliative Care in Rare Diseases, Winter 2014
Location: NIH Natcher Conference Center, Bethesda, MD
Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.
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.
2013 Cilia, Mucus and Mucociliary Interactions Gordon Research Conference, Sunday, April 07, 2013 - Friday, April 12, 2013
Location: Lucca, Italy
Description: The goals of this conference are to bring together multidisciplinary experts in ciliary motility, mucus, mucociliary interactions and other cilia/fluid systems to discuss the latest results in these fields and to investigate new ways of approaching these dynamic interactive systems to further understanding of their properties and impact in human health and disease.
RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
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.
2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference, Sunday, February 13, 2011 - Friday, February 18, 2011
Location: Ventura, CA
Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.
VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.