Abstract

The UCDC will conduct training and provide education in two areas. First we have been successful and plan to continue to attract and train new clinical investigators in rare diseases research (especially inborn errors of metabolism). Secondly, we will conduct educational activities for clinicians, investigators, patients, their families and the lay public in UCD. In this grant proposal we request $50,000 per year in support of training post-doctoral fellows/junior faculty members in a formal 1-2 year program. We have developed this program during the first grant cycle and have enrolled a total of 11 trainees (see Clinical Overview, Section 8.3). Trainees included 1 predoctoral student, 8 clinical postdoctoral fellows and two clinician investigator junior faculty members. We plan to continue to train two individuals at any one time using matching institutional funds. In the initial year we propose to fund two junior faculty members as UCDC trainees who will commit a minimum of 40% effort to this program (See 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 #
5U54HD061221-07
Application #
8142837
Study Section
Special Emphasis Panel (ZRG1)
Project Start
Project End
Budget Start
2010-08-01
Budget End
2011-07-31
Support Year
7
Fiscal Year
2010
Total Cost
$72,031
Indirect Cost

  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
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
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

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