(CLINICAL TRANSLATIONAL CORE(CTC): CORE B) PROJECT SUMMARY Description: The Clinical Translation Core (CTC) provides investigators with a set of services to enhance the productivity of Intellectual and Developmental Disability (IDD) clinical translational researchers. The CTC focuses on the effective and rapid collection of IDD study populations that are of adequate size and well- characterized. IDDs are highly variable disorders that result from heterogeneous genetic factors which affect brain function in a non-uniform manner. Scientific progress demands that each IDD be well characterized and stratified along more than one dimension in order to control for a degree of clinical heterogeneity that otherwise could confound progress in developing therapies. The CTC addresses this challenge by providing a host of approaches to enable recruitment of very large samples that are well-characterized across relevant dimensions. These supports include (a) Creating new websites for individual projects that will serve as both a recruitment portal and as a mechanism to enable online IRB consent and collection of ?light phenotyping? through use of a common IDD library of questionnaires; (b) Mining the CHOP/Penn electronic health record for recruitment and for study data; (c) Creation of a shared IDD database that is common to all IDDs investigated at our institutions. This shared database will facilitate secondary analyses that discriminate clinical features specific to a particular IDD; and (d) The coordination of the many existing clinical translational resources at CHOP/UPenn, in order to carry out the CTC's aims in the most cost effective manner, and amplify its effectiveness. The CTC also provides expert consultation with (a) gold standard clinician administered assessments, as well as (b) deep phenotyping via a host of novel, technology based approaches for quantifying behavior (e.g., eye tracking, motion capture, use of on online computer adaptive tests). In addition to these crucial supportive roles, the CTC will foster new clinical investigation by creating an infrastructure that will be available to future investigators, which will simplify their entre to high-quality human research. Relevance to IDDRC Mission: Then CTC is of fundamental importance to the mission of the IDDRC as it facilitates interdisciplinary and translational research in IDD. It is a vital component of the CHOP/UPenn Center's goal of advancing the diagnosis, prevention, treatment, and amelioration of IDDs. The CTC helps bridge all three domains of the organizing theme of the CHOP/Penn IDDRC (see Overall: Overview of Center): ?Genes, Brain, and Behavior?. By centrally focusing on quantifying behavior, as well as facilitation of biosample collection, it is integral the process of successfully understanding and treating the biological bases of the behavioral manifestations of IDD. Eligibility: These services are available both to approved users of the IDDRC at CHOP/UPenn and to approved users at other Centers in the Network.
Showing the most recent 10 out of 223 publications
