Center for Genetic Disorders of Cognition and Behavior
Mission Statement The Center focuses on advancing research and clinical practice on genetic disorders associated with severe cognitive and behavioral impairment, in order to improve the quality of life for patients and families. The Center’s staff includes clinicians and scientists trained in basic and clinical neurosciences, who collaborate in multidisciplinary activities and research projects. The goal of the Center is to generate and integrate knowledge, from bench to patient, across disorders and disciplines, as well as to provide information and guidance for affected individuals and their families.
News Highlights:
Mission Statement The Center focuses on advancing research and clinical practice on genetic disorders associated with severe cognitive and behavioral impairment, in order to improve the quality of life for patients and families. The Center’s staff includes clinicians and scientists trained in basic and clinical neurosciences, who collaborate in multidisciplinary activities and research projects. The goal of the Center is to generate and integrate knowledge, from bench to patient, across disorders and disciplines, as well as to provide information and guidance for affected individuals and their families.
News Highlights:
- Autism spectrum disorder in Fragile X syndrome: a longitudinal evaluation.
- Brain metabolism in Rett Syndrome: age, clinical, and genotype correlations.
- Gross motor profile in Rett syndrome as determined by video analysis.
- Eukaryotic Elongation Factor 2 (eEF2) and Fragile X Mental Retardation Protein (FMRP) control the dynamic translation of Arc/Arg3.1 essential for mGluR-dependent synaptic depression.
- Mosaic FMR1 deletion causes Fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature


Fragile X Syndrome
