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