@article{75185cb635854f46a82f5e20340c0223,
title = "Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders",
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.",
keywords = "animal models, biomarkers, neurodevelopmental disorders, signaling pathways, translational",
author = "Michela Fagiolini and Annarita Patrizi and Jocelyn LeBlanc and Jin, {Lee Way} and Izumi Maezawa and Sarah Sinnett and Gray, {Steven J.} and Sophie Molholm and Foxe, {John J.} and Johnston, {Michael V.} and Sakkubai Naidu and Mary Blue and Ahamed Hossain and Shilpa Kadam and Xinyu Zhao and Quiang Chang and Zhaolan Zhou and Huda Zoghbi",
note = "Funding Information: This work was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development U54 Grant ( HD090260 ) to the Human Clinical Phenotyping Core of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (SM); Rett Syndrome Research Trust grant to SG, and an NIH grant 4T32HD040127-15 to SS. Indirect administrative support for SJG was provided by Research to Prevent Blindness to the UNC -CH Department of Ophthalmology IDDRC center grant ( U54HD090256 ) (QC); NIH NINDSROS1NS095959 and Children{\textquoteright}s Hospital Boston Intellectual And Developmental Disabilities Research Center (BCH IDDRC 1U54HD090255 ) (MF); U54HD086984 (ZZ). Publisher Copyright: {\textcopyright} 2020",
year = "2020",
month = oct,
day = "1",
doi = "10.1016/j.neuroscience.2020.04.037",
language = "English (US)",
volume = "445",
pages = "190--206",
journal = "Neuroscience",
issn = "0306-4522",
publisher = "Elsevier Limited",
}