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CRI director Maria honored for brain research

On July 28 Bernard L. Maria, M.D., Children’s Research Institute executive director and Jeffrey Edwin Gilliam Professor, received the Research Advocacy Award from the Joubert Syndrome Foundation and Related Cerebellar Disorders. 

The international award recognized Maria’s decade-long contributions to the field of research on the brainstem and cerebellum, critical structures within the brain. 

“Dr. Maria received the award for his passion to make a difference in the lives of children affected by Joubert syndrome,” said  Cheryl Duquette, foundation director. 

For more than 10 years, Maria worked to define a spectrum of rare genetic disorders that cause malformations within the brainstem and cerebellum, also called the hindbrain. 

In 1996, he discovered the molar tooth sign now used around the world as the radiological hallmark for these conditions.  Maria and collaborators  recently showed that Joubert syndrome was the first human condition where major motor tracts in the brain are uncrossed. 

The first gene to cause Joubert syndrome, NPHP1, was identified by collaborators in  the last few months. 

“I am honored by this award and am very excited about how rare disorders can teach fundamental lessons about the brain, such as why one side of our brain controls the other side of our body,” Maria said. 

He also noted “the process of taking important questions about specific diseases into the laboratory to understand basic problems, and then translating those findings into actionable steps for families of affected children is exactly what the new Children’s Research Institute is all about.”

Friday, Aug. 13, 2004
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