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Genetic and Rare Diseases Information Center (GARD)

Joubert syndrome 2

Other Names for this Disease
  • JBTS2
  • Cerebellooculorenal syndrome 2
  • CORS2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events

ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • Gordon Research Conference (GRC): Cilia, Mucus and Mucociliary Interactions, Sunday, February 08, 2015 - Friday, February 13, 2015
    Location: Hotel Galvez, Galveston, TX
    Description: The aims of the meeting are three fold: (1) To disseminate, discuss and integrate cutting-edge data related to progress in cilia, mucus and mucociliary interactions in a forum of world experts and young scientists. Each area will embrace advances in fundamental cell and molecular biology, development, novel imaging techniques, new animal models, and genetic discovery. Attendees will be able to use this information to improve their own understanding to advance their own work, teaching and to be stimulated for new discoveries in these areas. (2) To provide a forum that will link fundamental scientific knowledge related to cilia, mucus, and mucociliary interactions to human disease and avenues for diagnosis and therapies. Thereby, drive new collaborations, technologies and interactions among basic, translational, and clinical researchers related to gene function in diseases of cilia, mucins, mucosal immunity, disease diagnosis and treatment. (3) To promote involvement and advancement of trainees, women and under-represented groups in the study of cilia, mucus and mucociliary interactions. To assure a strong and equitable representation of women, minorities, young investigators (junior faculty, pre-doctoral, post-doctoral trainees) and those with disabilities through sound proactive planning and organization, we will invite and feature young investigators and trainees. The meeting format is designed to enhance the interaction of trainees and senior investigators.

  • 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.

  • 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.

Other Conferences

Other Names for this Disease
  • JBTS2
  • Cerebellooculorenal syndrome 2
  • CORS2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.