1. Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders
- Author
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Fagiolini, Michela, Patrizi, Annarita, LeBlanc, Jocelyn, Jin, Lee-Way, Maezawa, Izumi, Sinnett, Sarah, Gray, Steven J, Molholm, Sophie, Foxe, John J, Johnston, Michael V, Naidu, Sakkubai, Blue, Mary, Hossain, Ahamed, Kadam, Shilpa, Zhao, Xinyu, Chang, Quiang, Zhou, Zhaolan, and Zoghbi, Huda
- Subjects
Pediatric ,Rett Syndrome ,Neurodegenerative ,Neurosciences ,Rare Diseases ,Genetics ,Mental Health ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Biotechnology ,Mental health ,Carrier Proteins ,Child ,Developmental Disabilities ,Humans ,Methyl-CpG-Binding Protein 2 ,Mutation ,Reproducibility of Results ,neurodevelopmental disorders ,translational ,animal models ,biomarkers ,signaling pathways ,Psychology ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
Disruptions in the gene encoding methyl-CpG binding protein 2 (MECP2) underlie complex neurodevelopmental disorders including Rett Syndrome (RTT), MECP2 duplication disorder, intellectual disabilities, and autism. Significant progress has been made on the molecular and cellular basis of MECP2-related disorders providing a new framework for understanding how altered epigenetic landscape can derail the formation and refinement of neuronal circuits in early postnatal life and proper neurological function. This review will summarize selected major findings from the past years and particularly highlight the integrated and multidisciplinary work done at eight NIH-funded Intellectual and Developmental Disabilities Research Centers (IDDRC) across the US. Finally, we will outline a path forward with identification of reliable biomarkers and outcome measures, longitudinal preclinical and clinical studies, reproducibility of results across centers as a synergistic effort to decode and treat the pathogenesis of the complex MeCP2 disorders.
- Published
- 2020