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Diseases

Genetic and Rare Diseases Information Center (GARD)

Oculomotor apraxia Cogan type


Other Names for this Disease
  • Congenital oculomotor apraxia
  • Cogan's syndrome type 2
  • Saccade initiation failure congenital
  • COMA
  • Ocular motor apraxia, Cogan type
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.

  • 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.

Other Names for this Disease
  • Congenital oculomotor apraxia
  • Cogan's syndrome type 2
  • Saccade initiation failure congenital
  • COMA
  • Ocular motor apraxia, Cogan type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.