Developmental Mechanisms of Human Idiopathic Scoliosis

项目摘要/摘要（行政核心）

PROJECT SUMMARY/ABSTRACT (ADMINISTRATIVE CORE) We have established an innovative Program entitled “Developmental Mechanisms of Human Idiopathic Scoliosis”. This program combines unbiased gene discovery in humans, modeling and gene discovery in zebrafish, and genomic analysis of gene regulatory sequences that are defining the underlying causes of adolescent idiopathic scoliosis (AIS), the most common musculoskeletal disorder in children. Three research groups are leading these efforts. Project 1 “Human” focuses on AIS gene discovery and is led by Carol Wise, PD, PI, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children. Project 2 “Zebrafish” is led by Lila Solnica-Krezel, Washington University School of Medicine St. Louis, and her co- investigator Dr. Ryan Gray, University of Texas. Project 3 “Genomics” is led by Nadav Ahituv, University of California San Francisco. The Administrative Core will aid activities of the Program, which is already a working collaborative, and will be ultimately responsible for its execution and productivity. The Program Director Dr. Wise, the Core Administrator, Ms. Liza Nowlin, and web portal administrator Dr. Kidane will oversee the administration of the Program. The Core will facilitate organization, communication, data flow, compliance, and productivity between the research groups. Specific responsibilities of the Core will be to ensure effective and frequent communication between component groups of the project by hosting regular meetings either virtually or in person. These will include regular meetings with the Advisory Committee. Primary purposes of the meetings will be to rigorously interpret results ensuring quality control, identify progress toward specified goals, and to interact with the Advisory Committee. The Core will be responsible for confirming that requisite resources are available for each Project, defining timelines for achieving specified goals, monitoring progress toward those goals, and helping to guide any necessary programmatic changes. A major goal of our collaborative is to generate knowledge, tools, and resources that will spur the field of spine deformity research forward. The Administrative Core will also oversee deposition of multi-omics Programmatic data into SpineSource, a new tool that was developed in the prior award cycle to facilitate and centralize communication and data sharing. We expect that SpineSource will become an important resource for not only our team but other researchers and stakeholders in the area of spine and spinal deformity. Otherwise the Administrative Core will be responsible for regularly monitoring budgets and ensuring that funding is disbursed appropriately, and for compliance with ethical guidelines, with institutional and federal requirements (e.g. institutional review boards, institutional animal care and use committees), and with data-sharing policies. Finally, the Core will facilitate the preparation and submission of manuscripts, ensuring fairness and consistency with NIH public access policies. In these ways the Core will promote synergistic interaction within the Program and hasten the goal to decipher the pathogenesis of AIS.