A. OBJECTIVE The primary goal of the UNC DDRC is to advance productive, innovative, collaborative research on the pathogenesis and treatment/prevention of mental retardation and neurodevelopmental disorders by providing DDRC Investigators with administrative and core research support in the context of a stimulating, interactive environment. The BMC advances this goal through three interdependent objectives, each of which reflects our expertise in behavioral measurement in humans and in mice, and our successful linkage of these two domains: 1. Traditional approaches to research in mental retardation and developmental disability have used standard, general phenotype measures like IQ, adaptive behavior, or global impressions. However, it has become increasingly apparent that the phenotypes associated with developmental disorders are complex and that a more detailed elucidation of these phenotypes facilitates the search for neural correlations, genetic mechanisms, and efficacious interventions. For example, global assessments of developmental status can be replaced with specific """"""""red flags"""""""" that are associated with abnormal brain development or gene function, and global clinical constructs (e.g., autism) can be refined into quantitative dimensional symptom measures that may be more directly linked to neurological and genetic variation. One overarching objective of the BMC is to develop innovative phenotyping procedures that can be used in humans and mice to tap behaviors associated with clinical syndromes. 2. The innovative phenotyping procedures developed in Objective 1 are of particular value when they are deployed in neurobiological and genetic studies. Our second objective is to facilitate the use of comprehensive phenotyping in neurobiological and genetic studies of clinical syndromes. Effective integration of behavior with neurobiology and genetics is facilitated through consulting with DDRC researchers regarding measurement and design, providing laboratory space and expertise, and further refinement of phenotyping procedures. The Mouse BPL provides researchers with a multifaceted behavioral phenotyping battery (described in detail below) that goes well beyond the level of assessment that could be sustained by an independent researcher, and the Human BPL provides laboratory space, equipment, and expertise for state-of-the-art behavioral phenotyping. 3. Finally, research on interventions evokes additional challenges such as the need to identify disorder-specific features that underlie functional impairment, to evoke behaviors in mice that could be related to clinical symptoms, and to ascertain relevant human populations in which interventions can be tested. A third objective of the BMC is to integrate innovative and comprehensive phenotypic methods in the context of clinical intervention studies.
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