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
Waisbren, Susan E; Gropman, Andrea L; Members of the Urea Cycle Disorders Consortium (UCDC) et al. (2016) Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis 39:573-84
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
Laemmle, Alexander; Gallagher, Renata C; Keogh, Adrian et al. (2016) Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS One 11:e0153358
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
Krivitzky, Lauren S; Walsh, Karin S; Fisher, Evelyn L et al. (2016) Executive functioning profiles from the BRIEF across pediatric medical disorders: Age and diagnosis factors. Child Neuropsychol 22:870-88
Atwal, Paldeep S; Medina, Casey R; Burrage, Lindsay C et al. (2016) Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. J Hum Genet 61:669-72
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
Shi, Dashuang; Allewell, Norma M; Tuchman, Mendel (2015) From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases. Int J Mol Sci 16:18836-64
Pferdehirt, Rachel; Jain, Mahim; Blazo, Maria A et al. (2015) Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. Mol Genet Metab Rep 4:89-91

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