The Administrative Core's infrastructure will help ensure the Center's success and accelerate application of its discoveries. The Core will provide broad organization, scheduling, institutional compliance and financial control across the P50 activities and also coordinate P50 activities with the NIH. Core A also will be responsible for ensuring the Center's projects retain a patient-centric philosophy, and it will manage and support the Enrichment and Pilot components of the Center. Core A has the following three specific aims:
SPECIFIC AIM 1 : Provide Center-wide communication, organization, and coordination Communication, efficient transfer and integration of diverse opinions are critical to the success of our mission. Therefore, Core A virill interact with all other Projects and Cores to organize, track, and update progress of patient analyses, including the timely transfer of data from project to project and of notifications regarding items that might affect interpretation. The Core will also track and communicate changes in patients'wishes with regard to opting in or out of the study.
SPECIFIC AIM 2 : Control the Center "clock" The Core will activate a mandatory re-analysis of exome data for each patient every 18 months to incorporate discoveries made in the field since the initial analysis. In addition, the Core will manage and track, using automated software, the "20-week" timeline that is the Center's goal for identification of a patient to return of results, including sequencing, pipeline analysis, discussion, and incorporation of functional analyses.
SPECIFIC AIM 3 : Manage proposal solicitation and evaluation for the Pilot &Feasibility Program and support both it and the Enrichment Program

Public Health Relevance

The Administrative Core's infrastructure will help ensure the Center's success by providing broad organization, scheduling, institutional compliance and financial control, by coordinating interactions with other funded centers at Duke and elsewhere, by ensuring the Center's projects retain a patient-centric philosophy, and by supporting the Enrichment and Pilot Programs.

Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Specialized Center (P50)
Project #
5P50DK096415-02
Application #
8539607
Study Section
Special Emphasis Panel (ZDK1-GRB-G)
Project Start
Project End
Budget Start
2013-09-01
Budget End
2014-08-31
Support Year
2
Fiscal Year
2013
Total Cost
$195,204
Indirect Cost
$70,870
Name
Duke University
Department
Type
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705
Angrist, M; Jamal, L (2015) Living laboratory: whole-genome sequencing as a learning healthcare enterprise. Clin Genet 87:311-8
Liu, Yangfan P; Tsai, I-Chun; Morleo, Manuela et al. (2014) Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest 124:2059-70
Davis, Erica E; Frangakis, Stephan; Katsanis, Nicholas (2014) Interpreting human genetic variation with in vivo zebrafish assays. Biochim Biophys Acta 1842:1960-1970
Gee, Heon Yung; Otto, Edgar A; Hurd, Toby W et al. (2014) Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int 85:880-7
Margolin, David H; Kousi, Maria; Chan, Yee-Ming et al. (2013) Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med 368:1992-2003
Ryan, Sean; Willer, Jason; Marjoram, Lindsay et al. (2013) Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. Development 140:4445-51
Katsanis, Sara Huston; Katsanis, Nicholas (2013) Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 14:415-26
Niederriter, Adrienne R; Davis, Erica E; Golzio, Christelle et al. (2013) In vivo modeling of the morbid human genome using Danio rerio. J Vis Exp :e50338