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Academic Units>>School of Medicine>>Pathology

Pathology
scholarships Cerebral Creatine Deficiency Syndrome Research Center
Cerebral Creatine Deficiency Syndrome are a family of genetic neurodevelopmental disorders which have devastating consequences for the central nervous system. Currently, the most common form (Creatine Transporter Deficiency) lacks an effective treatment and represents approximately 2-3% of X-linked intellectual disability. We are pioneering a novel gene therapy for effected children with this disorder. The Center partners with the ACD to bring up new treatments and diagnostic testing.