Joubert Syndrome (JS) Biennial Conferences: Advancing Translational Ciliopathy Research, Enhancing Clinical Care

October 21-22, 2013


Developmental Biology and Structural Variation Branch (DBSVB), Division of Extramural Research (DER), NICHD; Office of Rare Disease Research (ORDR), NIH; National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases


Boston Convention and Exhibition Center, Boston, Massachusetts


JS is a neurodevelopmental disorder characterized by a distinctive hindbrain malformation combined with hypotonia, cognitive impairment, 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" unified by their overlapping phenotypes and shared disease mechanisms affecting primary cilium and basal body function.

This conference aims to:

  • Educate professionals and families about JS diagnosis.
  • Update the 2004 recommendations External Web Site Policy for the diagnosis, evaluation, monitoring and treatment of patients with JS.
  • Discuss future research priorities and get input from families and investigators.

Conference discussions include research updates in genetics, mechanisms and clinical-translational areas, new healthcare recommendations for patients with JS, a patient/family presentation, as well as a poster session.

For more information on the conference, visit External Web Site Policy.


Dr. Lorette Javois, DBSVB, DER, NICHD
Tel: (301) 496-6890

Please note: Views expressed during NICHD-sponsored events do not necessarily reflect the opinions or the official positions of NICHD, NIH, or HHS.
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