Center for Clinical and Translational Science: Bridging Diagnostic Odysseys to Drug Discoveries

Abstract

The Center for Clinical and Translational Science (CCTS; UAB Hub) is located in a region of the country heavily burdened by chronic diseases like obesity, diabetes, cancer, stroke and hypertension. The vision of the CCTS is to ameliorate disparities in these and other conditions that disproportionately affect our region, especially in underserved, underrepresented and special populations represented both within our region and across the nation. The CCTS leverages multidisciplinary expertise and cutting-edge capacity available within an 11-institution Partner Network spanning Alabama, Mississippi and Louisiana to develop the platform for integrating genomic information to guide disease prevention, diagnosis, and treatment. As part of its patient-driven drug discovery and development strategy, this network serves as a critical referral mechanism to our Undiagnosed Diseases Program (UDP). Modeled after the NIH initiative, the UDP is a clinical program that seeks to meet the needs of patients with severe chronic medical conditions or rare diseases in whom a diagnosis has not been made despite extensive efforts. Through collaborative case conferences, a team of expert clinicians guides the intake and patient experience in a process that utilizes advanced genetic and genomic technologies in a concentrated effort to bring some closure to this diagnostic odyssey and thus determine and recommend effective treatment. In some cases, the genomic analyses reveal variants of unknown impact. As one of three NIH-sponsored Centers for Precision Animal Modeling based at the CCTS Hub, we are able to create animal models of disease for study. With a broad research base and state-of-the-art research capacities, including rigorous study design, analytic methodologies, informatics, peer review mechanisms and pilot research opportunities, the CCTS is then well-positioned to work collaboratively to advance pathophysiologic studies of such polymorphisms to understand the biologic significance and to develop assays for therapeutic screening. These assays can be used in high-throughput screens of novel and FDA-approved compounds and benefit from expertise in drug development and lead optimization. Pre-clinical testing and clinical trials are enabled by the agile and vibrant research ecosystem fostered by the CCTS and its Partners, including a knowledgeable and skilled clinical research workforce, regulatory support, clinical information systems, efficient contract management and participant engagement. The Center’s regional Southeast Health Alliance for Research and our link to the national Trial Innovation Network elevates this ability for multi-site investigation. Taken together, the CCTS Partner Network has forged a comprehensive pathway of specialized expertise and cutting-edge capacity to create a fertile environment to improve health and health equity through interdisciplinary teamwork, engaged communities and innovative approaches to its application.

Authors
Jennifer
Croker
CCTS Senior Administrative Director and Asst. Professor of Medicine
Orlando
Gutierrez
Professor
ROBERT
KIMBERLY
Professor