The Urea Cycle Disorders Consortium's Administrative Unit coordinates all UCDC activities and is led by UCDC principal investigator/director, Mark L, Batshaw, MD. Co-principal investigators have spefic roles to ensure that the Consortium operates smoothly. Dr. Mendel Tuchman serves as Administrative Director and Co-PI, leading the the consortium when Dr, Batshaw is unable to do so, assisting Dr. Batshaw with Consortium administration and directing the clinical and pilot projects, Co-Pl Marshall Summar is responsible for industry and international relationships,assists Dr. Batshaw withUCDC administration and with Dr. Brendan Lee co-directs the training program: Co-Pl Cynthia LeMons is the executive director of the National Urea Cycle Disorders Foundation and serves as an advisor to the UCDC leadership, representing patients'interests in major UCDC decisions. She will also direct external communications from the UCDC to the patient community. Dr. Robert McCarter from Biostatistics and Study Design Unit at Children's Medical Center and Dr. Jeffrey Krischer from the Data Management and Coordinating Center at University of South Florida will advise the UCDC leadership on study design and results analysis. In addition to the directors. Dr. Brendan Lee at Baylor College of Medicine directs the training program, project manager Jennifer Seminara is responsible for UCDC operations, and Arlene Gendron assists with administrative duties. The UCDC holds monthly conference calls and one annual in-person meeting: The DMCCs audit program ensures quality data and is supplemented by a monitoring program directed by the UCDC project manager.

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 #
2U54HD061221-11
Application #
8858731
Study Section
Special Emphasis Panel (ZTR1-CI-8 (01))
Project Start
2014-08-25
Project End
2019-07-31
Budget Start
2014-08-25
Budget End
2015-07-31
Support Year
11
Fiscal Year
2014
Total Cost
$172,208
Indirect Cost
$72,087
Name
Children's Research Institute
Department
Type
DUNS #
143983562
City
Washington
State
DC
Country
United States
Zip Code
20010
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
Shapiro, Elsa; Bernstein, Jessica; Adams, Heather R et al. (2016) Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab 118:65-9
Opladen, Thomas; Lindner, Martin; Das, Anibh M et al. (2016) In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. Mol Genet Metab 117:19-26

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