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NeuroDevelopmental Disorders including Autism Spectrum Disorders

UMMS basic scientists working in this area include Drs. Joel RichterPaul Greer, and Dori Schafer.

Fragile X syndrome is the most-frequently inherited form of intellectual disability and the most-prevalent single-gene cause of autism. It i caused by the absence of fragile X mental retardation protein (FMRP), an RNA-binding protein that suppresses translation. Richter’s work seeks to identify the key genes whose dysregulated expression leads to the neurodevelopmental phenotypes of Fragile X Syndrome, using mutant mouse models with the relevant genetic defect.

Greer and Schafer are investigating the role of microglia in brain development and function.

UMMS is home to the Eunice Kennedy Shriver Center, whose mission is to improve the lives of people with intellectual and developmental disabilities (IDD).  This extensive Center provides services and support to individuals with developmental disabilities, and their families.  In addition to outcomes research and clinical trials weighing the benefits of diet and exercise, additional research is conducted by Drs. Jean Frasier, David Cochran, and David Kennedy who assess neurochemical and neuroanatomical alterations in individuals with intellectual disabilities, with an emphasis on brain imaging.