Continuing the training activities of the currently funded project, this RDCRC will make full use of the extensive, pre-existing infrastructure for clinical research training at consortium sites to develop and attract investigators to the study of rare diseases. As in the original application, training will be accomplished by a vertically integrated approach that will attract investigators from all levels of training: medical students, postdoctoral fellows, and junior faculty as well as allied health professionals. Junior investigators conducting relevant clinical research projects while participating in formal clinical research training will receive direct funding support as well.

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 #
5U54HD061222-09
Application #
8381952
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
$36,812
Indirect Cost
$3,310
Name
University of Alabama Birmingham
Department
Type
DUNS #
063690705
City
Birmingham
State
AL
Country
United States
Zip Code
35294
Sajan, Samin A; Jhangiani, Shalini N; Muzny, Donna M et al. (2017) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19:13-19
Dy, Marisela E; Waugh, Jeff L; Sharma, Nutan et al. (2017) Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol 75:91-95
Killian, John T; Lane, Jane B; Lee, Hye-Seung et al. (2017) Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol 70:20-25
Tarquinio, Daniel C; Hou, Wei; Berg, Anne et al. (2017) Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain 140:306-318
Tan, Wen-Hann; Bird, Lynne M; Sadhwani, Anjali et al. (2017) A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A :
Lane, Jane B; Salter, Amber R; Jones, Nancy E et al. (2017) Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord 47:1102-1112
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
Percy, Alan K (2016) Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr 166:325-32
Shivers, Carolyn M; Leonczyk, Caroline L; Dykens, Elisabeth M (2016) Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome. J Autism Dev Disord 46:2126-37
Killian Jr, John T; Lane, Jane B; Lee, Hye-Seung et al. (2016) Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr Neurol 58:67-74

Showing the most recent 10 out of 68 publications