Click Here to register for the Joubert Syndrome Biennial Conferences Advancing Translation Ciliopathy Research Enhancing Clinical Care.
NEW -- Limited prizes available for junior investigators. Submissions for abstracts open until October 1, 2013.
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|4/20/2015 - IMPORTANT INFORMATION (updated July 30, 2013)
Abstracts Submission Guidelines: < 250 words due by October 1, 2013
Posters: standard ASHG sizing (2'10" (86.36 cm) wide x 3'8" (111.8 cm) high)
To be considered for a junior investigator prize, a CV should also be submitted.
The second Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care, sponsored by the NIH, ORDR and JSRDF, will be held October 21-22, 2013 at the Convention Center in Boston, MA. Joubert Syndrome (JS) is a debilitating neurodevelopmental disorder characterized by a distinctive hindbrain malformation (the "molar tooth sign") 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. The Goals of the conference are to: 1) Educate professionals and families about JS diagnosis; 2) Update the 2004 healthcare recommendations for diagnosis, evaluation, monitoring and treatment of patients with JS; 3) Discuss future research priorities with input from families and investigators; 3). The Conference will feature research updates in genetics, mechanisms and clinical-translational areas, new healthcare recommendations for patients with Joubert syndrome, a presentation from patients and families, and a poster session. Participants are encouraged to present ciliopathy-related research during the poster session. Lunch will be provided both days. For more information, see the schedule below
Questions? Contact Karen Tompkins at email@example.com