Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center

摘要

ABSTRACT Our overarching vision of the Boston Children’s Hospital and Harvard Medical School Intellectual and Developmental Disorders Research Center (IDDRC) is to improve the lives of individuals with IDD with timely and efficient translation of scientific research through collaboration among our institutions’ exceptional investigators and clinicians in partnership with the external IDD community. To achieve our broad vision, we organize the Center’s research around four clearly defined themes: 1) Discovery of genetic and non-genetic causes of IDD; 2) Determination of the cellular bases of IDDs using advanced imaging and analysis tools; 3) Identification of translational phenotypes in animal models of IDD to validate therapeutics; 4) Accelerated translation of research discoveries into new prevention and treatment strategies for IDDs. The Center currently supports 106 research projects and 68 investigators through the Administrative Core and the four scientific Cores. The Administrative Core is the hub of the Center as it provides both scientific and administrative leadership which promotes synergistic, interdisciplinary interactions that address IDD-related issues at multiple levels, trains the next generation of young investigators and facilitates outreach and dissemination of IDD research to diverse audiences. The Genetic Analysis and Editing Core (GAEC) provides access to the latest technological advances both in genetic analysis and in gene editing. The Cellular Imaging Core (CIC) facilitates the study of cellular and circuit biology through state-of-the-art imaging and image analysis services which enable visualization of fixed tissue, in vitro organ explants and in vivo awake behaving model organisms. The Animal Behavior and Physiology (AB&P) Core provides investigators with access to a wide range of validated technologies and scientific expertise for in vivo rodent behavioral, biochemical and physiological measures in a well-controlled and rigorous preclinical setting. Finally, the Clinical Translational Core (CTC) provides full access for IDDRC PIs to all services required for translation of research discoveries into clinical innovation; this ranges from biosample collection and storage, generation of patient-derived stem cell models of diseases, drug screening platforms on the preclinical side to neurobehavioral and electrophysiological assessment of IDD patients of different age groups as well as statistical and regulatory support of clinical trials. The Cores all interact through shared projects, providing complementary expertise and tools to address unique aspects of central scientific questions, and the Core directors meet to exchange ideas and optimize resource utilization in the monthly Executive Committee meetings. This integrated approach aims to enhance the translational potential of basic research in IDD by putting patients at the center of the drug discovery cycle starting with genetic and molecular screens through clinical trials. The Center engages frequently with patient- advocacy groups and the IDD community in a bi-directional manner to ensure that their needs and concerns steer the Center’s efforts.