Engagement and Dissemination Core

Cincinnati Childrens Hosp Med Ctr, Cincinnati OH

Investigators

Linked publications & trials

Abstract

Project Summary/Abstract Rare diseases (RD) and disorders collectively affect up to 30 million Americans. RD research faces key challenges: 1) insufficient knowledge about the etiology, pathophysiology, natural history and epidemiology of the diseases; 2) inadequate or non- uniform case definition and disease classification systems that make diagnosis and epidemiologic assessment difficult; 3) insufficient understanding of the determinants of multiple phenotypes and the relationships between genetic variance and phenotypic manifestations; 4) rarity and geographic dispersion of cases that hampers both access to qualified care and participation in research; 5) a dearth of clinically proven, safe and effective treatments; and 6) inadequate private investment into RD research and treatment. The Rare Diseases Act of 2002 authorized the Office of Rare Disease Research to recommend a research agenda and promote coordination and cooperation among research programs. The Rare Diseases Clinical Research Consortia (RDCRCs) that comprise the Rare Diseases Clinical Research Network (RDCRN) advance the diagnosis, management, and treatment of RDs to enhance clinical trial readiness. The RDCRN Data Management and Coordinating Center (DMCC) must provide state-of-the-art informatics, statistical and epidemiological expertise in clinical research study design and data management in order to support the production of evidence that can support the progression of rare disease clinical research (RDCR). To achieve clinical trial readiness (CTR) throughout the RDCRN, we will continue to lead the DMCC based at Cincinnati Children’s (CCHMC) pursuing three Aims: 1) To advance the methods and practice of RDCR and promote CTR through the effort of our Clinical Research Core (CRC) and Data Management Core (DMC); 2) To maintain and enhance a leading-edge, cloud-based data ecosystem to facilitate the research performed by the RDCRCs and promote data sharing; and 3) To expand research collaboration within the RDCRN and with other stakeholders and disseminate the RDCRN research findings, promoting the RDCRN globally. The DMCC Administrative Core will maintain an efficient organization of the DMCC, support RDCRN governance and promote collaboration across the RDCRN; the Data Management Core will support the RDCRN Operational Environment will facilitate FAIR data sharing in the RDCRN Data Repository; the Clinical Research Core that will advance CTR and best practices in RDCR, and will offer training through a methodology hub; the Engagement and Dissemination Core will implement a broad RDCRN outreach and dissemination program, engage the PAGs in RDCR, and offer opportunities for career enhancement. We rely on a combination of world-class expertise, outstanding infrastructure, state-of-the-art technology and enthusiastic institutional support. We will hasten scientific discovery within the RDCRN and bring new treatments to trial, ultimately promoting health and wellness for RD patients and their families.