Bernard L. Maria, MD, MBA
Professor
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
Contact Information
mariabl@musc.edu
843.792.7715
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
Research Interests
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.