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
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.
|Bolar, Nikhita Ajit; Golzio, Christelle; Å½ivnÃ¡, Martina et al. (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet 99:174-87|
|OzantÃ¼rk, AyÅŸegÃ¼l; Davis, Erica E; Sabo, Aniko et al. (2016) A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harb Mol Case Stud 2:a000703|
|Lindstrand, Anna; Frangakis, Stephan; Carvalho, Claudia M B et al. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 99:318-36|
|Katsanis, Nicholas (2016) The continuum of causality in human genetic disorders. Genome Biol 17:233|
|Angrist, Misha (2015) Start me up: ways to encourage sharing of genomic information with research participants. Nat Rev Genet 16:435-6|
|Anderson, Blair R; Howell, David N; Soldano, Karen et al. (2015) In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress. PLoS Genet 11:e1005349|
|Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K et al. (2015) De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 97:904-13|
|BÃ¶gershausen, Nina; Tsai, I-Chun; Pohl, Esther et al. (2015) RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest 125:3585-99|
|Bonora, Elena; Bianco, Francesca; Cordeddu, Lina et al. (2015) Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148:771-782.e11|
|Isrie, Mala; Breuss, Martin; Tian, Guoling et al. (2015) Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97:790-800|
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