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).

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 #
5U54HD061221-10
Application #
8535254
Study Section
Special Emphasis Panel (ZRG1-HOP-Y)
Project Start
Project End
Budget Start
2013-08-01
Budget End
2014-07-31
Support Year
10
Fiscal Year
2013
Total Cost
$66,489
Indirect Cost
$27,833
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

Showing the most recent 10 out of 93 publications