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