ASHG Ancillary Meeting

October 21-22, 2013


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.


If you select to pay via PayPal for early registration, you will need to click the Pay Now button below to make your payment.

12/1/2015  -  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

ASHG Ancillary Meeting

Questions? Contact Karen Tompkins at