Friday Lecture Series

Developing Treatments for Pediatric Brain Diseases through Genomics

Joseph Gleeson, M.D., professor of neurosciences and pediatrics,

University of California, San Diego;

investigator, Howard Hughes Medical Institute

 January 11, 2012

3:45 p.m.-5:00 p.m. (Refreshments, 3:15 p.m., Abby Lounge)

Caspary Auditorium

Recommended Readings

Dixon-Salazar, T. J., J. L. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. E. Schaffer, J. Olvera, et al. 2012. “Exome Sequencing can Improve Diagnosis and Alter Patient Management.” Science Translational Medicine 4 (138)

Novarino, G., N. Akizu, and J. G. Gleeson. 2011. “Modeling Human Disease in Humans: The Ciliopathies.” Cell 147 (1): 70-79

Novarino, G., P. El-Fishawy, H. Kayserili, N. A. Meguid, E. M. Scott, J. Schroth, J. L. Silhavy, et al. 2012. “Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy.” Science 338 (6105): 394-397

Parisi, M. A., C. L. Bennett, M. L. Eckert, W. B. Dobyns, J. G. Gleeson, D. W. W. Shaw, R. McDonald, A. Eddy, P. F. Chance, and I. A. Glass. 2004. “The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis is Present in a Subset of Individuals with Joubert Syndrome.” American Journal of Human Genetics 75 (1): 82-91

Yaari, R., I. A. Anselm, I. S. Szer, D. M. Malicki, M. P. Nespeca, and J. G. Gleeson. 2004. “Childhood Primary Angiitis of the Central Nervous System: Two Biopsy-Proven Cases.” Journal of Pediatrics 145 (5): 693-697