- Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
- Joubert syndrome with congenital hepatic fibrosis
- Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
- Gentile syndrome
- Joubert syndrome with hepatic defect
News & Events
NCATS Co-Sponsored Conferences
American Society of Gene & Cell Therapy (ASGCT) 19th Annual Meeting, Wednesday, May 04, 2016 - Saturday, May 07, 2016
Location: Washington, DC
Description: Save the date and plan to head to Washington, DC on May 4-7, 2016, for the premiere gene and cell therapy conference in the world. Taking place at the Marriott Wardman Park Hotel, the ASGCT 19th Annual Meeting will feature ground breaking clinical trial results, cutting edge technology advancements, social networking events, and much more. Join over 1,900 of the worlds top gene and cell therapy professionals for four full days of educational offerings including plenary lectures given by Dr. David R. Liu and 2015 Japan Prize recipients, Dr. Alain Fischer, and Dr. Theodore Friedmann.
2011 Neurobiology of Disease in Children Symposium: Childhood Ataxia, Tuesday, October 25, 2011
Location: Savannah, GA
Description: The overall aims of this NDC symposia are to (1) review scientific advances and determine their relevance to current and future clinical practice in child neurology; (2) coordinate efforts among various clinical and basic science disciplines, lay organizations, and the NIH to review current research initiatives and define future directions; and (3) disseminate symposia proceedings to ensure that clinical and basic science disciplines are informed about scientific advances, current research initiatives, and future directions. NDC symposia have brought together clinicians, scientists, caregivers, and NIH program officers to determine how research findings can be translated to enhance clinical understanding and affect clinical practice.
- Joubert Syndrome & Related Disorders Foundation
10th Biennial Conference
July 13-16, 2011