Supplement Awarded to ACTSI and UCSF CTSI: Consortia for Rare Genetic Disorders
The project, developed by the Rare Disease Workgroup of the CTSA Pediatric Oversight Committee, will focus on the expertise garnered from two pre-existing multi-site biobanks for two rare diseases, cystic fibrosis and sickle cell disease, as applied to two newly developing programs for SCID and Down syndrome. The key element will be to employ complementary experts from CTSAs in several areas: scientific leadership in clinical-translational research networks, biobanking, IT, data management, ethics and human subject protection, intellectual property, and parent/consumer perspectives as applied to research networks.
The goal of the project is to develop strategies to facilitate effective sharing of patient samples and data across multiple CTSA sites by examining the challenges, successes and lessons learned from two successful biorepositories established prior to the era of CTSAs; working with nationally recognized experts to apply those lessons to see how CTSAs can streamline multicenter sample sharing; and directly applying these lessons and expertise to create key documents to govern data/sample gathering for the launch of two newly developing programs as proof of principle effective distributed biobanks in the new CTSA environment.
UCSF's Joseph McCune (supplement PI), Jennifer Puck (Co-chair, National Pediatric Oversight Committee) and Emory's Stephanie L. Sherman, PhD (Consortium PI) lead the project.