Skip Navigation
  Print Page

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

Skip sharing on social media links
Share this:

October 21-22, 2013

Sponsor/Co-Sponsor(s)

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

Location

Boston Convention and Exhibition Center, Boston, Massachusetts

Purpose

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 http://www.jsrdf.org/ashgancillary External Web Site Policy.

Contact

Dr. Lorette Javois, DBSVB, DER, NICHD
Tel: (301) 496-6890
Email:  javoisl@mail.nih.gov​​

Last Updated Date: 10/17/2013
Last Reviewed Date: 10/17/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology