Batten Disease Clinical Research Consortium

About This Grant

CAREER ENHANCEMENT CORE – PROJECT SUMMARY/ABSTRACT The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are collectively the most prevalent childhood neurodegenerative diseases. Despite a growing understanding of the molecular and cellular pathophysiology, too few clinician investigators are conducting NCL translational research. This hinders development of the next wave of diagnostic and therapeutic approaches for these fatal disorders. The Batten Disease Clinical Research Consortium (BDCRC) Career Enhancement Core aims to prepare the next generation of clinician investigators to lead multidisciplinary, translational research in the NCLs. Specifically, we aim to (1) train post-graduate clinician investigators with interests across the translational science continuum, through a structured one-year fellowship program in NCL research, and (2) expose clinical professionals and rare-disease community audiences to multi-modal research training opportunities focused on state-of-the-art diagnostics, management, and research advances in the NCLs. In Aim 1, the most promising early-career clinician investigators will be recruited and selected from fields critical to innovative translational research in NCLs and related disorders. Funding will support career development activities and a research project for one fellow each year. Each fellow will be paired with a BDCRC mentor to complement the existing mentoring team at their home institution. In Aim 2, NCL-focused educational initiatives will be launched for audiences ranging from doctoral students to faculty: a translational research journal club to provide an open forum for critical review of recently published manuscripts and webinars covering key challenges and potential solutions in rare neurodegenerative disorders research, focusing on the NCLs and small-sample data analysis. These efforts leverage resources and expertise from across BDCRC sites, existing relationships with patient advocacy organizations, and the recent collaborative framework established by the Centers of Excellence Program of the Batten Disease Support, Research, & Advocacy Foundation. The Career Enhancement Core will engage trainees and speakers from a variety of clinical disciplines and institutions. The efforts of the BDCRC Career Enhancement Core align with the Rare Disease Clinical Research Network’s goal to establish and maintain an environment that fosters collaborative, patient-oriented, multi-site, multi-disciplinary research collaborations and career enhancement. The proposed work is directly in line with the commitment by the National Institutes of Health to develop researchers that are trained in the rigorous conduct of science, and possess the skills needed to thrive in an ever-changing research landscape.