Abstract

The Administrative Unit coordinates all UCDC activities and finances, sets general policies in collaboration with the RDCRN and ORD/NICHD, and serves as the home for the biostatistics/study design unit of the consortium that interfaces with the RDCRN Network DMCC, and for website resource development. The Administrative Unit is responsible for the ongoing evaluation of the productivity and effectiveness of regional sites, and oversees the training program. It ensures that the DSMP is implemented through the DMCC;that federal guidelines regarding inclusion of women, minorities and children are complied with;and that federal regulations (including HIPAA) and NIH policy regarding human subject projection are followed. The structure and components of the unit are described below.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54HD061221-09
Application #
8379490
Study Section
Special Emphasis Panel (ZRG1-HOP-Y)
Project Start
Project End
Budget Start
2012-08-01
Budget End
2013-07-31
Support Year
9
Fiscal Year
2012
Total Cost
$122,200
Indirect Cost
$51,153

  Institution

Name
Children's Research Institute
Department
Type
DUNS #
143983562
City
Washington
State
DC
Country
United States
Zip Code
20010

  Publications

Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
Posset, Roland; Garbade, Sven F; Boy, Nikolas et al. (2018) Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases. J Inherit Metab Dis :
Nagamani, Sandesh C S; Agarwal, Umang; Tam, Allison et al. (2018) A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med 20:708-716
Sin, Yuan Yan; Ballantyne, Laurel L; Richmond, Christopher R et al. (2018) Transplantation of Gene-Edited Hepatocyte-like Cells Modestly Improves Survival of Arginase-1-Deficient Mice. Mol Ther Nucleic Acids 10:122-130
Uittenbogaard, Martine; Brantner, Christine A; Chiaramello, Anne (2018) Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cells. Cell Death Dis 9:360
Uittenbogaard, Martine; Brantner, Christine A; Fang, ZiShui et al. (2018) Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. Mol Genet Metab 124:71-81
Waisbren, Susan E; Cuthbertson, David; Burgard, Peter et al. (2018) Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis 41:657-667
Sin, Yuan Yan; Price, Phillipe R; Ballantyne, Laurel L et al. (2017) Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency. Sci Rep 7:2585
Burrage, Lindsay C; Miller, Marcus J; Wong, Lee-Jun et al. (2016) Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr 169:208-13.e2
Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66

Showing the most recent 10 out of 113 publications