This application requests support for the scientific meeting, "Overcoming Barriers-New Developments and Future Directions for Urea Cycle Disorders," a satellite symposium to the 11th International Congress on Inborn Errors of Metabolism. The symposium will be held on August 27-29, 2009 at the Estancia Hotel Conference Center in La Jolla, California. The co-principal investigators of the symposium are Cynthia Le Mons, Executive Director, National Urea Cycle Disorders Foundation, Stephen Cederbaum, M.D., Professor of Psychiatry and Pediatrics and Associate Director for Clinical Research, UCLA Intellectual and Developmental Disabilities Research Center, and Brendan Lee, M.D., Ph.D., Professor of Molecular Genetics, and Howard Hughes Medical Institute Investigator, Baylor College of Medicine. This symposium implements the commitment of the National Urea Cycle Disorders Foundation, the only patient advocacy organization in the world focusing solely on urea cycle disorders (UCD), to initiate and support symposia to encourage and accelerate collaborative research into advances that save and improve the lives of patients affected by this rare disorder. UCDs are inborn errors of metabolism resulting in an accumulation of toxic ammonia (a waste product of protein metabolism) in the bloodstream and brain. These complex disorders are associated with high morbidity and mortality rates. Surviving newborns with severe defects suffer developmental disability, and are at increased risk for fatal crises. Chronic and acute episodes of hyperammonemia in children with partial defects result in cognitive and neurological deficits. The symposium will focus on exciting recent advances in UCD research that provide new insights into the pathophysiology of the disorder. These advances will provide the basis for future development of desperately needed interventional therapies to treat UCD and prevent its catastrophic effects on brain function. For the first time, neuroscientists and experts in UCD will be brought together to focus on the complex neurologic issues and foster research collaborations to address them. The symposium will provide a rare forum for international researchers, clinicians, scientists, and junior faculty to share and discuss new research being conducted in basic, translational, clinical, and therapeutic investigations for UCDs. Overall objectives of the symposium are to 1) identify and overcome barriers to progress, 2) share new information and challenge existing paradigms, 3) encourage innovative multidisciplinary collaborations, 4) inspire young investigators to the field, and 5) stimulate ideas which catalyze purposeful advancement and acceleration of research. The U.S. and international participants will include molecular and clinical geneticists, pediatric metabolic specialists, neuroscientists, neurodevelopmentalists, hepatologists, clinical and research nurses, metabolic dietitians, and genetic counselors. Outreach efforts will particularly focus on encouraging diversity and the participation of medical students, residents, postdoctoral fellows, and junior faculty, as well as advocates, clinicians, and scientists historically underrepresented in the field.
The satellite symposium will highlight new advances and encourage expansion and acceleration of research to improve the outcome of patients with urea cycle disorders. Focused collaboration on the complex neurological effects of urea cycle disorders on brain function may also contribute to increased understanding of neurologic dysfunction in other disorders.