Bernard L. Maria, M.D., M.B.A.

Executive Director of the Children's Research Institute;
Associate Director of the Neuroscience Institute;
Jeffrey Edwin Gilliam Chair of Neurodevelopment;
Professor of Pediatrics, Neurology, Physiology & Neuroscience;
Medical University of South Carolina

Phone: (843) 792-7715
Fax: (843) 792-7716
Room: RT476
Email:mariabl@musc.edu

Education:

• MD: 1981, University of Sherbrooke , Sherbrooke , Quebec , Canada
• Pediatrics: 1983, McGill University , Montreal , Quebec , Canada
• Child Neurology: 1986, Johns Hopkins University , Baltimore , Maryland
• Neuro-oncology: 1988, MD Anderson Cancer Center, Houston , Texas
• MBA: 1995, University of Florida , Gainesville , Florida

Previous Faculty positions:

University of Toronto's Hospital for Sick Children (1988-90);
University of Florida, Gainesville, FL (1990-2001);
University of Missouri School of Medicine (2001-2003).

Research interests:

• Neuralized stem cells in neuro-oncology;
• Neurogenetics of Joubert syndrome;
• Venous microvascular stasis in Sturge-Weber syndrome.

Dr. Maria's interests are in basic neuro-oncology research, in Joubert syndrome, and in Sturge-Weber syndrome. In terms of neuro-oncology, one project involves understanding the interactions between neuralized stem cells and glioma cells. Stem cells hold promise as vehicles designed to deliver cytotoxic agents to infiltrative brain tumor cells. In addition, stem cells can repair central nervous system damage caused by motile and invasive tumors in the brain. The results indicate that stem cells are attracted to gliomas in vitro and that they hone to tumors deep within the brain in vivo.

A second active project is the study of Joubert syndrome, a rare autosomal recessive disorder associated with hypotonia, developmental delay, hyperpnea/apnea, ocular motor apraxia, and a hindbrain malformation. In 1997, Dr. Maria described the molar tooth sign, the radiological hallmark of the syndrome. Recent NIH funding will enable Dr. Maria and collaborators to establish the national registry for Joubert Syndrome and Related Disorders (JSRD). Collaborators are investigating mouse mutants, dysmorphology, family history, and behavioral aspects of Joubert syndrome.

A third active project is coordinating international conferences on important pediatric neurological disorders. A 5-year R13 conference grant from NIH supports “Neurobiology of Diseases in Children” conferences on neurofibro-matosis, leukodystrophies, tuberous sclerosis, Rett syndrome, and Tourette syndrome.

Selected Publications

Devile, C., Packer, R., Walker, K.C., and Maria, B.L. : What's new in neuro-oncology. European Journal of Paedriatric Neurology 4:255-262, 2000.

Maria, B.L ., Bozorgmanesh, A., Kimmel, K., Theriaque, D., and Quisling, R.G.: Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. Journal of Child Neurology 16:751-758, 2001.

Padgett, K.R., Maria, B.L ., Yachnis, A.T., and Blackband, S.J.: Ex vivo high resolution MRI of the brain in Joubert syndrome. Journal of Child Neurology 17(12):911-913, 2002.

Gleeson, J.G., Keeler, L.C., Parisi, M.A., Marsh, S.E., Chance, P.F., Glass, I.A., Graham, Jr., J.M., Maria, B.L., Barkovich, A.J., and Dobyns, W.B.: The Molar Tooth Sign of the Midbrain-Hindbrain Junction: Occurrence in Multiple Distinct Syndromes. American Journal of Medical Genetics 125A(2):125-134, 2004.

Maria, B.L., Moser, H., Naidu, S.: Leukodystrophies: Pathogenesis, Diagnosis, Strategies, Therapies, and Future Research Directions. Journal of Child Neurology, 18(9):578-590, 2003.

Thomas-Sohl, K.A., Vaslow, D., Maria, B.L.: Sturge-Weber syndrome: A review. Pediatric Neurology 30(5):303-310, 2004.

Parisi, M. A., Pinter, J. D., Glass, I. A., Field, K., Maria, B. L., Chance, P. F., Mahurin, R. K., and Cramer, S. C. Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: A functional MRI study. J. Child Neurol. (In Press, 2004).